Monthly Archives: July 2012

Gene Mutations Associated With Enlarged Brain Size, Disorders

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July 2, 2012

Lawrence LeBlond for redOrbit.com Your Universe Online

At least three genetic mutations found in the human brain have been linked to enlarged brain size (megalencephaly) and a number of disorders, including cancer, epilepsy and autism, according to new research led by Seattle Childrens Research Institute.

The mutations were found in the genes AKT3, PIK3R2 and PIK3CA. The mutations were also linked to vascular disorders and skin growth disorders, said the researchers. The study, published in the online edition of the journal Nature Genetics on June 24, offers important implications for the future of medicine through the research findings.

Study leaders, geneticist William Dobyns, MD, and Jean-Baptiste Rivire, PhD, discovered through their research additional proof that the genetic makeup of a person is not completely determined at the moment of conception. The new evidence ties in with previous research that recognized that genetic changes can occur after conception, although considered quite rare.

The researchers also discovered the genetic causes of these human diseases, including developmental disorders, may also directly lead to new possibilities for treatment.

AKT3, PIK3R2 and PIK3CA are found in all humans, but only when they are mutated do they lead to the diseases and disorders. PIK3CA is known as a cancer-related gene, and appears to make cancer more aggressive. Boston Childrens Hospital researchers recently found a common link between the PIK3CA gene and a rare condition known as CLOVES syndrome.

James Olson, MD, PhD, a pediatric cancer expert at Seattle Childrens and Fred Hutchinson Cancer Research Center acknowledged the two decades-worth of work that led to the findings.

This study represents ideal integration of clinical medicine and cutting-edge genomics, said Olson, who was not involved in the latest research. I hope and believe that the research will establish a foundation for successfully using drugs that were originally developed to treat cancer in a way that helps normalize intellectual and physical development of affected children.

He noted that the team did an excellent job by deep sequencing exceptionally rare familial cases and unrelated cases to identify the culprit pathway. He further noted that the three genes all encode core components of the phosphatidylinositol-3-kinase/AKT pathway, the culprit pathway, as referenced by his work.

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High Pressure Sensors expand flow chemistry use.

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July 2, 2012 - Available for use with FlowIR(TM) dedicated Fourier Transform Infrared Spectroscopy (FTIR) instrument, interchangeable FlowIR High Pressure (HP) Sensors come in DiComp and SiComp models that allow chemists working with high-pressure experiments to swap sensor types as needed to meet application requirements. Diamond and silicon sensors, which can be trusted under pressures up to 725 psi and temperatures up to 120C, cover full spectral region and are insensitive to bubbles. Original Press release Mettler-Toledo International Inc. Im Langacher Greifensee, , 8606 Switzerland Greifensee, Switzerland. - METTLER TOLEDO is pleased to announce the launch of its new FlowIRTM High Pressure (HP) Sensors for use with FlowIRTM. FlowIRTM is a small, dedicated Fourier Transform Infrared Spectroscopy (FTIR) instrument that offers real-time flow chemistry monitoring nearly anywhere within a continuous reactor setup. The addition of durable HP Sensors expand the use of flow chemistry by allowing users to gain the enhanced control of critical process parameters provided by FlowIRTM in high-pressure experiments. Benefits include faster experiment optimization, easier lab-to-plant scaling, reduced costs, and shorter time-to-market.

Interchangeable FlowIRTM HP Sensors, available in both DiComp and SiComp models, allow chemists working with high pressure experiments to quickly and easily swap sensor types to meet the needs of the current application. The new models can be trusted under pressures up to 50bar (725psi) and temperatures up to 120C.

FlowIRTM HP Sensors cover the full spectral region with swappable diamond and silicon sensors. Their insensitivity to bubbles makes them ideal for continuous hydrogenations, and the inclusion of a temperature variable flow head maintains reaction integrity.

No extra equipment or setup is required to use the new sensors. Users simply substitute the high-pressure version for the standard FlowIRTM sensor, gaining the same performance, optical window, chemical compatibility, and flow characteristics they enjoy with the standard sensor.

For more about FlowIRTM HP Sensors or to request a quote, please visit http://www.mt.com/flowir and select the "Accessories" tab.

Contact information

Patricia Hicks Mettler-Toledo AutoChem, Inc. +1-410-910-8486 patricia.hicks@mt.com

About METTLER TOLEDO

METTLER TOLEDO provides the enabling technology, software and people that can help build a seamless workflow to translate bench scale chemistry into a commercial process. For more than 20 years, our enabling tools and services have been a strategic resource providing critical information for thousands of development scientists and engineers. Companies have used that knowledge to accelerate the discovery, development and scale-up of new chemical processes spanning the chemical and biopharmaceutical industries. For more, visit http://www.mt.com.

BEI Sensors new Model 9960 Hall effect rotary position sensor is available in numerous standard configurations with fast, one week delivery for small quantities. Packaged in a highly sealed (IP67) housing and utilizing non-contacting Hall effect technology makes the 9960 an exceptionally rugged and reliable rotary motion control sensor.

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M’sian lab has the right chemistry for success

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ALOR SETAR: The Malaysian Chemistry Department is on par with chemistry laboratories in developed countries, said Science, Technology and Innovation Minister Datuk Seri Dr Maximus Johnity Ongkili.

This was proven when the department recently received the forensic service accreditation from the American Society of Crime Laboratory Directors/Laboratory Accreditation Board.

The accreditation proves that our laboratory service is on par with that of foreign countries, he said when met after visiting the Chemistry Departments Kedah branch in conjunction with its fifth anniversary here yesterday.

Ongkili said the Chemistry Department had been using new DNA techniques in animal and plant analysis, and analysis studies in forensic and microbiology.

He added that the department was also Asias reference laboratory for genetically modified organisms (GMO), halal analysis and forensic DNA analysis.

Ongkili said the department was now focusing on reducing the waiting period for its clients through better work management, adding that the waiting period for each case was between a day to a month.

The departments Kedah branch handled a total of 14,510 cases involving 31,902 samples. They also helped the police in certain cases especially those relating to drugs and controlled poisons.

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TI introduces first multi-cell, multi-chemistry battery gas gauge for lithium batteries

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DALLAS, July 2, 2012 /PRNewswire/ -- Texas Instruments Incorporated (TI) (TXN) today introduced the first in a family of multi-chemistry, multi-cell battery management gas gauge circuits with TI's proprietary Impedance Track capacity measurement technology. The bq34z100 power management chip is the first gas gauge in the industry to support a wide range of lithium-ion and lithium iron phosphate chemistries in 2- to 16-cell battery packs, extending battery run-time in applications like medical instruments, power tools, e-bikes and uninterruptible power supplies (UPS). TI also plans to introduce new gauges this year to support lead acid, nickel cadmium and nickel metal hydride chemistries. For more information, samples and evaluation module, visit: http://www.ti.com/bq34z100-pr.

Highest degree of capacity measurement Today's multi-cell lithium battery designs in portable industrial and medical equipment need a more accurate way to measure remaining battery capacity. The bq34z100 battery gauge leverages Impedance Track technology, which uses charge voltage measurements, battery characteristics and properties to determine a battery's state-of-health and maintain up to a 94-percent accurate capacity measurement for the entire life of the battery. The circuit also works independently of series-cell configuration, and can reduce power consumption through an external voltage translation circuit.

Key features and benefits of the bq34z100:

Availability and pricing The bq34z100 multi-chemistry fuel gauge for lithium-based batteries is available now in a 14-pin, 5-mm x 6-mm TSSOP package, priced at $2.10 in quantities of 1,000. TI's new bq34z110 battery gauge for lead acid batteries is planned for release in the third quarter. A new gauge for NiCd and NiMH is planned for announcement later this year.

Find out more about TI's battery management portfolio:

About Texas Instruments Texas Instruments semiconductor innovations help 90,000 customers unlock the possibilities of the world as it could be smarter, safer, greener, healthier and more fun.Our commitment to building a better future is ingrained in everything we do from the responsible manufacturing of our semiconductors, to caring for our employees, to giving back inside our communities.This is just the beginning of our story.Learn more at http://www.ti.com.

Trademarks TI E2E and Impedance Track are trademarks of Texas Instruments. All registered trademarks and other trademarks belong to their respective owners.

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Nature Biotechnology Publications Showcase Value of PacBio RS in De Novo Genome Assembly

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MENLO PARK, Calif.--(BUSINESS WIRE)--

Two papers in Nature Biotechnology, both published online on July 1, 2012 highlight the unique value for de novo genome assembly provided by the PacBioRS High Resolution Genetic Analyzer from Pacific Biosciences of California, Inc. (PACB).

Due to the inherent limitations of commonly used short-read sequencing technologies, the genomes of very few species have been completely sequenced, or finished. PacBios single molecule, real-time (SMRT) technology offers very long reads that reduce the number of contiguous sequences, or contigs, to simplify and improve genome assembly. These multi-kilobase reads allow scientists to sequence through long repeat regions and to identify structural variation, which are common in genomes but not possible to resolve completely with short-read platforms. As a result, PacBio long reads can lead to final assemblies that matchand in some cases even exceedthe quality that previously counted as finished, approaching the gold standard of a perfect genome.

In the publication from Koren et al., titled Hybrid error correction and de novo assembly of single-molecule sequencing reads, the authors demonstrate a new pipeline for assembly of the parrot genome. Using PacBio long reads in combination with high-accuracy short reads and an updated version of Celera Assembler, they assembled for the first time regulatory regions of genes involved in vocal learning circuits. The hybrid reads represent the most complete assembled bird genome now available.

"Repetitive regions are the biggest impediment to all assembly algorithms and sequencing technologies as they introduce ambiguity in the reconstruction of the genome, said Sergey Koren, Ph.D., Scientist of Bioinformatics at the National Biodefense Analysis and Countermeasures Center. Using the long reads we have access to longer sequences, which increases the probability of spanning a repeat and leads to better assemblies at lower depths than short reads.

A separate publication from Bashir et al., titled A hybrid approach for the automated finishing of bacterial genomes, describes combining contigs from second-generation sequencing technologies with PacBio sequence data for the cholera strain responsible for the 2010 Haitian outbreak. The authors show that their hybrid assembly resolved complex regions with several repeats and suggest that the approach offers a solution for rapid identification and assembly of full microbial genomes.

The publication of these two studies is evidence of how our long-read technology is emerging as the gold standard for finishing genome assemblies and identifying, annotating and deciphering genomic structure, said Mike Hunkapiller, President and CEO at Pacific Biosciences. Moreover, investigators are finding creative ways to take advantage of the unique benefits provided by our SMRT sequencing and enabling scientific applications that are simply not possible with short-read sequencing platforms.

The Nature Biotechnology publication details are as follows:

For more information on de novo genome assembly with the PacBioRS, please visit our website at http://www.pacb.com/denovo.

About Pacific Biosciences

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Research and Markets: The Chinese R&D Landscape – Biotechnology

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DUBLIN--(BUSINESS WIRE)--

Research and Markets (http://www.researchandmarkets.com/research/tnv4rd/the_chinese_randd) has announced the addition of the "The Chinese R&D Landscape - Biotechnology" report to their offering.

R&D in China in the field of biotechnology has surged over the last decade. This report seeks to answer the following questions related to this surge in R&D:

- Where in China does the R&D in the field of biotechnology take place?

- What companies and academic institutions in China are driving this R&D effort?

- What has been the focus of Chinese R&D in the field of biotechnology?

The foundation for the study has been the complete database of Chinese invention patents and patent applications from the State Intellectual Property Office of China. This database has been supplemented with geographical data, thereby providing information on the who', what', where' and when' of invention in China. Only patents with Chinese priority have been included in the analysis, i.e. not patents filed elsewhere but extended to China.

The Following Information is Included in the Report:

- The top 20 cities with regards to the number of patent applications in the field of biotechnology, along with the number of applications and share of all applications in each city.

- The top 10 companies with regards to the number of patent applications in the field of biotechnology, along with the cities they are located in, number of patent applications, and main patenting area (defined by the main International Patent Classification assigned to their patents).

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Research and Markets: The Chinese R&D Landscape - Biotechnology

FMRI Brain Scanner Reads Thoughts Letter By Letter

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Featured Article Academic Journal Main Category: MRI / PET / Ultrasound Also Included In: Neurology / Neuroscience;Medical Devices / Diagnostics;Biology / Biochemistry Article Date: 02 Jul 2012 - 3:00 PDT

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Bettina Sorger of Maastricht University in The Netherlands and colleagues report their work in the 28 June online issue of Current Biology.

Human communication depends on being able to move and use a multiplicity of muscles, such as in forming sounds and words and making gestures and facial expressions. To do this the neuromuscular system must be healthy and undamaged. But severely motor-disabled patients, such as those with locked-in syndrome, who are fully conscious and aware, can't have a back-and-forth conversation because their neuromuscular system is not intact.

The challenge to scientists trying to find ways to enable such patients to communicate is to tap into those parts of the brain that are performing the mental tasks of communication but are denied the means with which to express them physically, using the motor system or voluntary muscles.

fMRI tracks brain activity by measuring changes in blood flow (hemodynamics) and oxygen in the brain. When a brain area is more active it uses more oxygen, and to meet this increase in demand, the blood flow to the area increases. Thus using fMRI, researchers can produce activation maps that show which parts of the brain are involved in particular brain processes.

Neuroscientists like Adrian Owen and his team have already used fMRI to assess consciousness in people thought to be in an unconscious vegetative state and thus incapable of thought, and enabled them to respond yes or no to questions.

This latest study by Sorger and colleagues takes that work a stage further, as Sorger explained to the press:

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SFM Homepage Video -Why We Practice Integrative Medicine – Video

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30-06-2012 13:21 Sherwood Family Medicine, an Integrative Health Center. Why we integrate allopathic medicine with naturopathic medicine. Features Maggie Yu MD, Carrie Jones ND, and Elizabeth Lewis PA. For more information visit http://www.SherwoodFamilyMedicine.com, Like Us on Facebook/SherwoodFamilyMedicine, and subscribe to this channel for more videos.

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World has 5 million test tube people

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In-vitro fertilisation (IVF) has given the world about five million new people since the first test tube baby was born in England 34 years ago.

AS the initial controversy over man's scientific manipulation of nature has faded, about 350,000 babies conceived in petri dishes are now born every year, the European Society of Human Reproduction and Embryology (ESHRE) said on Monday.

That represents about 0.3 per cent of the 130-million babies added to the world population annually.

"Millions of families with children have been created, thereby reducing the burden of infertility," said David Adamson, chairman of the International Committee for Monitoring Assisted Reproductive Technologies (ICMART).

IVF, which involves placing an egg and sperm together in a petri dish for conception, and a sub-category known as ICSI (intracytoplasmic sperm injection) where the sperm is inserted with a micro-needle directly into the egg, have become commonplace.

But it has proven controversial over the years, with some fearing it paved the way for so-called designer babies whose characteristics are chosen by parents.

The Vatican considers it immoral because of the wastage of a large number of embryos, and the procedure has been criticised for allowing women to have children until a much older age.

The five million milestone "justifies all the legal and moral battles, the ethical debates and hard-fought social approval," said Simon Fishel, a member of the team that helped conceive the world's first IVF baby, Louise Brown, born in 1978.

The birth estimate was done by ICMART for the 28th annual meeting of ESHRE which opened in Istanbul, Turkey, on Sunday.

It is based on the number of IVF and ICSI treatments recorded worldwide up to 2008, and estimates for the years thereafter for which confirmed figures are not yet available.

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The world's number of IVF and ICSI babies has now reached a calculated total of 5 million

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Public release date: 1-Jul-2012 [ | E-mail | Share ]

Contact: Christine Bauquis christine@eshre.eu 32-499-258-046 European Society of Human Reproduction and Embryology

Istanbul, 1 July 2012: The number of babies born as a result of assisted reproduction technologies (ART) has reached an estimated total of 5 million since the world's first, Louise Brown, was born in July 1978. The figures will be presented this week at the 28th annual meeting of ESHRE (European Society of Human Reproduction and Embryology), which begins today, 1st July, in Istanbul, Turkey.

The calculation was made for a presentation at the congress from ICMART (International Committee for Monitoring Assisted Reproductive Technologies) and was based on the number of IVF and ICSI treatment cycles recorded worldwide up to 2008 with estimations added for the following three years. The cumulative total of births was put at 4.6 million last year, and this year has now reached an approximate total of 5 million.

Commenting on this remarkable milestone, Dr David Adamson, from Fertility Physicians of Northern California, USA, and Chairman of ICMART, said: "It means that this technology has been highly successful in treating infertile patients. Millions of families with children have been created, thereby reducing the burden of infertility.

"The technology has improved greatly over the years to increase pregnancy rates. The babies are as healthy as those from other infertile patients who conceive spontaneously. The technology is available globally in many different cultures. The major barriers to access are economic, and societal in some situations. With these accomplishments as a technology, and with recognition of Professor Robert Edwards as a Nobel Laureate, IVF is firmly established now in the mainstream of medicine."

Other ICMART data indicate that around 1.5 million ART cycles are now performed globally each year, producing around 350,000 babies. This number continues to rise. The two most active countries of the world are the USA and Japan, but the most active region by far is Europe.

The picture in Europe

The latest European data to be presented at the ESHRE congress are for 2009, and show that demand for treatment - as expressed in treatment cycles performed in European countries - continues to grow, from 532,260 in 2008 to 537,287 in 2009.

The average availability of ART in Europe is close to 1000 cycles/million inhabitants, but this figure varies greatly between countries and is largely dependent on local state funding policies. Availability in Europe is greater than in the USA but less than in Australia.

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The world's number of IVF and ICSI babies has now reached a calculated total of 5 million

Ongkili: Malaysia’s Chemistry Dept of world standard

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Posted on July 2, 2012, Monday

ALOR SETAR: The expertise and high-tech procedures applied by Malaysias chemistry department is on par with international standards, Science, Technology and Innovation Minister Datuk Seri Dr Maximus Ongkili said.

Our chemistry department does not use second class equipment the ministry will constantly ensure that, he told reporters in conjunction with the fifth anniversary celebrations of the departments Kedah branch here yesterday.

He said the departments analysis techniques have also progressed from conventional analysis to instrumentation analysis which can provide speedier, accurate and quality results.

Earlier in his speech, he said the department needs to enhance its analysis competitiveness given the presence of private laboratories which are also providing similar services.

He said the department also plays an important role as a reference centre for scientific findings.

In this regard it serves as an Asean reference laboratory for analysis of genetically modified organisms (GMOs) and halal products, and a DNA forensic reference centre.

There is no end to efficiency, there is always room for improvement. Innovations do not necessarily require more power and additional funds; laboratory operating procedures need to be regularly upgraded, he said, adding that the department needed to find and initiate an approach that would shorten the analysis period. Bernama

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Researcher hunts for sickle cell anemia cure

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Halfway around the world in India, Sivaprakash Ramalingam had heard of Johns Hopkins researchers using a promising new technique for gene therapy that he hoped to integrate with stem cells to cure diseases.

After getting a doctorate in biochemistry in his native country, he came to Baltimore four years ago to study under the technique's pioneer, Srinivasan Chandrasegaran, at Hopkins' Bloomberg School of Public Health. Ramalingam's research has led him down the path of seeking a cure for sickle cell anemia, a painful, life-shortening blood disorder that afflicts many in his home region in southern India. In the United States, the disease affects 70,000-100,000 people, mostly African-Americans, according to the National Heart Lung and Blood Institute.

"I couldn't have done this type of research in India," said Ramalingam. "I wanted to use this technique with stem cells to treat disease."

Ramalingam's research was given a lift last month by the state. He was one of 17 researchers who was funded by the Maryland Stem Cell Research Commission, a state entity that has doled out roughly $10 million to $12 million a year in taxpayer funds since its founding in 2006.

The program helps keep Maryland competitive in stem cell research when other states have instituted similar ones to lure scientists and biotechnology companies. More than 100 researchers applied for funding from the program, many from Johns Hopkins and the University of Maryland.

"There's definitely a great demand for the awards," said Dan Gincel, the commission's director. "We're trying to figure out how to fund so many researchers."

Gincel said Ramalingam's work is interesting because his approach could have applications beyond sickle cell anemia. It could be used to treat other diseases and, for instance, modify plants and crops to make them resistant to pests.

Ramalingam received a $110,000 award two years ago from the commission to help fund his post-doctoral fellowship; the commission invested more money in his work this year because he was continuing to progress with it, Gincel said.

"The approach can be translated to many other diseases, which is what we want to see with stem cells," said Gincel.

Ramalingam is applying a relatively new technique called zinc finger nuclease, or ZFN, to try to cure sickle cell anemia. With ZFN, Ramalingam is able to target and replace specific, problem-causing sequences of the human genome with healthier genetic material.

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DNA test on Angeline, supposed mom negative

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MANILA, Philippines The DNA test conducted on Angeline Quinto and Veronica Tolentino, the woman who claims to be the singers biological mom, turned out to be negative.

Quintos DNA, however, matched that of her father Pop Quiros, according to The Buzz.

In an interview with the ABS-CBN talk show which aired on Sunday, Quinto said she had mixed emotions when she learned about the DNA test results.

Natutuwa po ako na si Papa ko talagang tatay ko po at siyempre 'yung mga nakilala ko po na mga kapamilya ko simula noong bata ako, talagang kapamilya ko po. Pero siyempre may halo rin pong lungkot kasi nakita niyo naman po kung ano ang reaction ni Aling Veronica, talagang umiyak siya noong niyakap niya ako, she said.

While she vows to continue searching for her biological mom, Quinto also hopes that Tolentino will eventually find her real daughter.

Sabi ko nga po pasensya na po kayo, siguro po ganoon talaga. Tapos tinatanong niya po ako bakit daw ganun, alam daw po kasi niyang talagang anak nyia ako. Naiyak nga rin po ako kanina pero pinigilan ko kasi ayaw kong makita niya, she said.

Asked what she wants to tell her mother if she happens to be watching, Quinto said: Sana po kung nagdadalawang isip pa kayong magpakita sa akin... huwag po kayo mag-alala kasi naiintindihan ko naman na po lahat iyon kahit na sumama ang loob ko sa inyo nung bata ako. Matagal ko na kayong gustong makilala kahit makita ko lang po.

Meanwhile, Tolentino said she will forever consider Quinto as her daughter. She also hopes the singer will never be changed by fame.

Mabigat sa loob ko kasi nga alam ko talaga anak kita. Parang hindi ko makaya. Para akong binagsakan ng lupat langit. Pero anak, anak pa rin ang tawag ko sa iyo, huwag mo na lang ipagkait. Sana huwag ka magbago, she said.

Tolentino also thanked Quinto for going out of her way just to have the DNA test conducted.

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FOXO1 gene may play important role in Parkinson's disease

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ScienceDaily (June 29, 2012) A recent study led by researchers at Boston University School of Medicine (BUSM) revealed that the FOXO1 gene may play an important role in the pathological mechanisms of Parkinson's disease.

These findings are published online in PLoS Genetics, a peer-reviewed open-access journal published by the Public Library of Science.

The study was led by Alexandra Dumitriu, PhD, a postdoctoral associate in the department of neurology at BUSM. Richard Myers, PhD, professor of neurology at BUSM, is the study's senior author.

According to the Parkinson's Disease Foundation, 60,000 Americans are diagnosed with Parkinson's disease each year and approximately one million Americans are currently living with the disease.

Parkinson's disease is a complex neurodegenerative disorder characterized by a buildup of proteins in nerve cells that lead to their inability to communicate with one another, causing motor function issues, including tremors and slowness in movement, as well as dementia. The substantia nigra is an area of the midbrain that helps control movement, and previous research has shown that this area of the brain loses neurons as Parkinson's disease progresses.

The researchers analyzed gene expression differences in brain tissue between 27 samples with known Parkinson's disease and 26 samples from neurologically healthy controls. This data set represents the largest number of brain samples used in a whole-genome expression study of Parkinson's disease to date. The novel aspect of this study is represented by the researchers' emphasis on removing possible sources of variation by minimizing the differences among samples. They used only male brain tissue samples that showed no significant marks of Alzheimer's disease pathology, one of the frequently co-occurring neurological diseases in Parkinson's disease patients. The samples also had similar tissue quality and were from the brain's prefrontal cortex, one of the less studied areas for the disease. The prefrontal cortex does not show neuronal death to the same extent as the substantia nigra, although it displays molecular and pathological modifications during the disease process, while also being responsible for the dementia present in a large proportion of Parkinson's disease patients.

Results of the expression experiment showed that the gene FOXO1 had increased expression in the brain tissue samples with known Parkinson's disease. FOXO1 is a transcriptional regulator that can modify the expression of other genes. Further examination of the FOXO1 gene showed that two single-nucleotide polymorphisms (SNPs), or DNA sequence variations, were significantly associated with age at onset of Parkinson's disease.

"Our hypothesis is that FOXO1 acts in a protective manner by activating genes and pathways that fight the neurodegeneration processes," said Dumitriu. "If this is correct, there could be potential to explore FOXO1 as a therapeutic drug target for Parkinson's disease."

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FOXO1 gene may play important role in Parkinson's disease

FOXO1 gene may play important role in Parkinson’s disease

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ScienceDaily (June 29, 2012) A recent study led by researchers at Boston University School of Medicine (BUSM) revealed that the FOXO1 gene may play an important role in the pathological mechanisms of Parkinson's disease.

These findings are published online in PLoS Genetics, a peer-reviewed open-access journal published by the Public Library of Science.

The study was led by Alexandra Dumitriu, PhD, a postdoctoral associate in the department of neurology at BUSM. Richard Myers, PhD, professor of neurology at BUSM, is the study's senior author.

According to the Parkinson's Disease Foundation, 60,000 Americans are diagnosed with Parkinson's disease each year and approximately one million Americans are currently living with the disease.

Parkinson's disease is a complex neurodegenerative disorder characterized by a buildup of proteins in nerve cells that lead to their inability to communicate with one another, causing motor function issues, including tremors and slowness in movement, as well as dementia. The substantia nigra is an area of the midbrain that helps control movement, and previous research has shown that this area of the brain loses neurons as Parkinson's disease progresses.

The researchers analyzed gene expression differences in brain tissue between 27 samples with known Parkinson's disease and 26 samples from neurologically healthy controls. This data set represents the largest number of brain samples used in a whole-genome expression study of Parkinson's disease to date. The novel aspect of this study is represented by the researchers' emphasis on removing possible sources of variation by minimizing the differences among samples. They used only male brain tissue samples that showed no significant marks of Alzheimer's disease pathology, one of the frequently co-occurring neurological diseases in Parkinson's disease patients. The samples also had similar tissue quality and were from the brain's prefrontal cortex, one of the less studied areas for the disease. The prefrontal cortex does not show neuronal death to the same extent as the substantia nigra, although it displays molecular and pathological modifications during the disease process, while also being responsible for the dementia present in a large proportion of Parkinson's disease patients.

Results of the expression experiment showed that the gene FOXO1 had increased expression in the brain tissue samples with known Parkinson's disease. FOXO1 is a transcriptional regulator that can modify the expression of other genes. Further examination of the FOXO1 gene showed that two single-nucleotide polymorphisms (SNPs), or DNA sequence variations, were significantly associated with age at onset of Parkinson's disease.

"Our hypothesis is that FOXO1 acts in a protective manner by activating genes and pathways that fight the neurodegeneration processes," said Dumitriu. "If this is correct, there could be potential to explore FOXO1 as a therapeutic drug target for Parkinson's disease."

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Venous obstruction is of primary importance in MS pathogenesis – YES (CONy 2012) – Video

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30-06-2012 14:27 The 5th World Congress on Controversies in Neurology (CONy) - Asia Pacific Life Course Related Conditions Debate: Venous obstruction is of primary importance in MS pathogenesis - YES MULTIPLE SCLEROSIS TREATMENT October 14, 2011 11:10 | Length: 17:14 min Presenter: J. Kotowitcz

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Fundraiser helps boy get service dog

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A Grover Beach boy stricken with Friedreichs ataxia will get his service dog as a result of a fundraiser that drew more than 400 people Sunday.

Nine-year-old Lucas Appleton, who suffers from the progressively crippling form of muscular dystrophy, managed to spend five hours at the event at Mongos Saloon, said his godmother, Linda McClure, who organized the barbecue that included a prize drawing, musical performances and a bake sale.

It was a huge success, McClure said. Lucas was so happy and so was his brother (William) and mother, Casandra.

We raised enough to get him a dog, with a small amount left over for a van, and were working on that now, she said.

A trained service dog, which costs $12,000 to $15,000, will help Lucas maintain his balance, turn on lights for him, pick up things hes dropped, help him through the familys narrow bathroom door and just be a companion.

McClure said about 450 people and a host of dogs attended the event that started at 10:30 a.m. and continued until Mongos closed that night.

She noted Lucas had asked to have a golden retriever or black Labrador retriever for a service dog, which might not be possible.

But a golden retriever club heard about his request and showed up with all their dogs.

It was golden retrievers everywhere, she said, adding club members and dogs joined Friends of Grover Beach members to solicit donations outside Mongos on West Grand Avenue.

That brought in about $400 alone, she said, adding one woman walked in and quietly dropped a $500 check into the collection jar.

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Fundraiser helps boy get service dog

Autism-friendly Technology

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By DANG U. KOE

MANILA, Philippines Many parenting experts have long spoken of the ills of exposing children to too much electronic visual stimuli like television and computers. But progressive education proponents are also challenging todays parents to open their minds to the possibility that the next generation will face a school environment very different from ours. The learning environment of the future will be enriched with integrated photos and video teaching aides, instant access to latest research and interaction across vast distances.

Mona Magno-Veluz (@mightymagulang), ASP National Secretary, returns as this weeks Angel Talker.

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The unique challenges of individuals in the autism spectrum have given software and platform developers an opportunity to use technology to address the difficulties our ASD learners face.

Mobile Apps. A quick visit to the Apple App Store or the Android marketplace will give you many free and paid options for applications that can help a child with autism. Aside from picture-text apps that help language learning, the online application market is packed with student and teacher tools for behavior-tracking, conversation coaching, social stories development, listening therapy, observation recording, among others. Autism Speaks maintains a recommendations page on learner-tested applications.

Motion-controlled Gadgets. Games and learning software which responds to movement has been made possible by Ninendo Wii, Playstation Move and Microsoft Xbox Kinect. Many therapy centers all over the world have begun using these game platforms as tools in motor skills development for children on the spectrum.

A team of students from De La Salle-College of St. Benilde recently bagged first place in the Microsoft Philippines Imagine Cup 2012 for their software development project, KidCAMP, a Kinect-driven web and mobile application developed for PWA learners that provides communications and teaching tools, assists teachers in creating learning materials, and monitors student performance.

Digital Talking Books. The Autism Society Philippines, in cooperation with AusAid, is set to develop a series of DAISY (Digital Accessible Information System) digital talking books intended to teach children their human rights as individuals with disabilities, proclaimed by the United Nations. The project will feature social stories and will be illustrated by graphic designer Gabriel Atienza, a person with Asperger Syndrome.

Social Media. Setting aside the global debate on how much social media children should be exposed to, the various online platforms like Facebook and YouTube, have provided individuals with autism a medium to communicate with the outside world from the comfort of familiar surroundings.

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Autism-friendly Technology

Autism forum aims to unite parents, insurers

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Advocates of West Virginia children with autism want to the make the most of the state's new law requiring some insurance coverage for their treatment.

CHARLESTON, W.Va. -- Advocates of West Virginia children with autism want to the make the most of the state's new law requiring some insurance coverage for their treatment.

That's why they're holding a summit July 13 at Stonewall Jackson Resort in Lewis County. They hope to help parents learn about, obtain and then use this coverage for their children.

The summit is also for treatment providers and representatives of the insurance companies and programs that will provide the coverage.

Scheduled speakers include several officials who helped launch autism insurance coverage in other states.

The Mountaineer Autism Project is a summit sponsor along with Training and Resources for Autism Insurance Navigation in West Virginia. TRAIN WV is a project funded by a Benedum Foundation grant devoted to creating statewide access to autism care.

Read more in Monday's Charleston Gazette.

That's why they're holding a summit July 13 at Stonewall Jackson Resort in Lewis County. They hope to help parents learn about, obtain and then use this coverage for their children.

The summit is also for treatment providers and representatives of the insurance companies and programs that will provide the coverage.

Scheduled speakers include several officials who helped launch autism insurance coverage in other states.

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Autism forum aims to unite parents, insurers

The Other Harm Caused by Mitochondrial DNA Damage in Aging

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As I'm sure you all know by now, mitochondria are swarming powerplants within the cell, descendants of symbiotic bacteria that bear their own DNA separate from the DNA in the cell nucleus. Mitochondrial DNA provides the blueprints for proteins making up the machinery of a mitochondrion, but it isn't as well protected or as well repaired as nuclear DNA. Given that a lot of reactive compounds are funneled through mitochondria in the processes that keep a cell powered, it is only to be expected that mitochondrial DNA becomes progressively more damaged over time. The range of mechanisms that have evolved to deal with that damage cannot keep up over the long term, and as a result a small but significant portion of our cells fall into ruin on the way to old age, becoming populated by dysfunctional, damaged mitochondria, and causing a great deal of harm to surround tissues and bodily systems by exporting a flood of reactive biochemicals. You can read a longer and more detailed description of this process back in the Fight Aging! archives.

So that is one side of the issue of mitochondrial DNA damage and its contribution to degenerative aging - and that in and of itself would be more than enough to make mitochondrial repair biotechnologies a research priority. There are many different potential ways of fixing or rendering irrelevant mitochondrial DNA damage, and allowing mitochondria to continue to function as well as they did at birth for an indefinite period of time. The sooner one of them is developed into a working therapy the better.

In considering mitochondrial damage there is another, more straightforward process at work, however. Many types of cell normally operate fairly close to the limit of the power provided by their mitochondria, including important cell populations in the brain and nervous system. As mitochondrial DNA damage accumulates with age, power production - meaning the pace at which adenosine triphosphate (ATP) is produced - falls off and cells either die or malfunction far more often than they did in youth. This is outlined in a recent open access review paper:

In aerobic cells the majority of ATP is produced by oxidative phosphorylation. This process takes place in the mitochondria where electrons that are donated from the Krebs cycle are passed through the four complexes (complex I-IV) comprising the electron transport chain (ETC), eventually reducing oxygen and producing water.

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Many cells operate at a basal level that only requires a part of their total bioenergetic capability. The difference between ATP produced by oxidative phosphorylation at basal and that at maximal activity is termed "spare respiratory capacity" or "reserve respiratory capacity" ... Under certain conditions a tissue can require a sudden burst of additional cellular energy in response to stress or increased workload. If the reserve respiratory capacity of the cells is not sufficient to provide the required ATP affected cells risk being driven into senescence or cell death.

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In this paper we hypothesize that mitochondria contributes to aging and age-related pathologies through a life-long continued decrease of the respiratory reserve capacity. The decrease sensitizes high energy requiring tissues to an exhaustion of the reserve respiratory capacity. This increases the risk of a range of pathologies that correspondingly are known to be age-related. Through a review of the effects of aging on the regulation of oxidative phosphorylation, we wish to substantiate this hypothesis. In addition, by using brain, heart, and skeletal muscle as examples, we will review how an age-related decrease of the reserve respiratory capacity is implicated in a variety of pathologies in the affected tissues.

Interestingly, there is a good case for arguing that it isn't just damage to mitochondria DNA (mtDNA) that reduces levels of power production in a cell's mitochondria - there are other changes taking place that turn down the dial, which in the absence of more definitive knowledge as to their causes could be classified either as programmed aging or as a programmed response to stochastic damage in other cellular systems:

Cumulative damage to the mtDNA is however, not the only contributor to the age-related decline of oxidative phosphorylation. Transcriptional profiling has revealed different regulation of nuclear genes encoding important peptides for oxidative phosphorylation when comparing young to old.

Either way, those mitochondria still need fixing. The biotechnologies capable of that job are on the horizon, and would be coming closer more rapidly if those involved in the work had a greater level of funding.

Source:
http://www.longevitymeme.org/newsletter/latest_rss_feed.cfm