Hidden topics amp; journalists Genetic Engineering
By: WORLD FOOD INSTITUTE
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Hidden topics & journalists Genetic Engineering - Video
Category Archives: Genetic Engineering
Self-destructing bacteria could lead to artificial life: Scientists build ‘kill’ system into GM organisms to ease …
The breakthrough was achieved by Harvard and Yaleuniversities They modified E. coli so it couldn't survive without an amino acid Scientists say they could stop supplying amino acid to kill bacteria It is possible to extend the technique to genetically modified crops This may ease concerns about GM strains mixing with organic food
By Ellie Zolfagharifard For Dailymail.com
Published: 12:18 EST, 21 January 2015 | Updated: 20:17 EST, 22 January 2015
Extreme gene manipulation has been used to modify bacteria that die if they get out of human control.
Instead of using traditional genetic engineering - which moves a gene from one organism to another - scientists have rewritten the language of genetics.
The breakthrough is a potential step toward better management of genetically engineered organisms, including crops.
Extreme gene manipulation tools have been used to modify bacteria that die if they get out of human control
Genetically altered microbes are used now in industry to produce fuels, medicines and other chemicals.
The new technique might also reduce the risk of using them outdoors, such as for cleaning up toxic spills.
Scientists from Harvard and Yale introduced the new approach in two papers released this week by the journal Nature.
Hidden topics & journalists Genetic Engineering – Video
Hidden topics amp; journalists Genetic Engineering
By: WORLD FOOD INSTITUTE
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Self-destructing bacteria could lead to artificial life: Scientists build 'kill' system into GM organisms to ease …
The breakthrough was achieved by Harvard and Yaleuniversities They modified E. coli so it couldn't survive without an amino acid Scientists say they could stop supplying amino acid to kill bacteria It is possible to extend the technique to genetically modified crops This may ease concerns about GM strains mixing with organic food
By Ellie Zolfagharifard For Dailymail.com
Published: 12:18 EST, 21 January 2015 | Updated: 20:17 EST, 22 January 2015
Extreme gene manipulation has been used to modify bacteria that die if they get out of human control.
Instead of using traditional genetic engineering - which moves a gene from one organism to another - scientists have rewritten the language of genetics.
The breakthrough is a potential step toward better management of genetically engineered organisms, including crops.
Extreme gene manipulation tools have been used to modify bacteria that die if they get out of human control
Genetically altered microbes are used now in industry to produce fuels, medicines and other chemicals.
The new technique might also reduce the risk of using them outdoors, such as for cleaning up toxic spills.
Scientists from Harvard and Yale introduced the new approach in two papers released this week by the journal Nature.
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Cloning & Genetic Engineering – Video
Cloning Genetic Engineering
By: Rejaul Alam
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Cloning & Genetic Engineering - Video
Scientists Give Genetically Modified Organisms A Safety Switch
Scientists reprogrammed the common bacterium E. coli so it requires a synthetic amino acid to live. BSIP/UIG via Getty Images hide caption
Scientists reprogrammed the common bacterium E. coli so it requires a synthetic amino acid to live.
Researchers at Harvard and Yale have used some extreme gene-manipulation tools to engineer safety features into designer organisms.
This work goes far beyond traditional genetic engineering, which involves moving a gene from one organism to another. In this case, they're actually rewriting the language of genetics.
The goal is to make modified organisms safer to use, and also to protect them against viruses that can wreak havoc on pharmaceutical production.
To understand what they've done, you may need to remember a bit of basic biology. The enzymes and other proteins in our bodies are all built from building blocks called amino acids. There are usually just 20 amino acids in nature. But George Church, a professor of genetics at Harvard Medical School, has created a bacterium that requires an additional amino acid, one made in the lab and not found in nature. His lab did that by rewriting the bacteria's genetic language to add a "word" that calls for this unnatural amino acid.
"So this really makes it a completely new branch of life," Church says.
These modified E. coli bacteria essentially speak a different genetic language from all other life on Earth. That means they can't easily swap genes, which bacteria often do to pick up or get rid of traits. And it also means that these modified E. coli must be fed the synthetic amino acid to survive.
"It will die as soon as you remove that essential nutrient," Church says.
The scientists say this radical re-engineering actually makes these synthetic life forms safer, because if they escape into the wild they'll die. One key question is whether these engineered bacteria can shed the traits that make them dependent on the synthetic amino acid. (Bacteria mutate all the time, picking up new traits and dropping others).
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Scientists Give Genetically Modified Organisms A Safety Switch
GM microbes created that cant escape the lab
Mediscan/Corbis
Synthetic biologists hope to treat disease in the gut by making Lactobacillus bacteria (pictured) that are dependent on an artificial amino acid.
Critics of genetic engineering have long worried about the risk of modified organisms escaping into the environment. A biological-containment strategy described this week in Nature1, 2 has the potential to put some of those fears to rest and to pave the way for greater use of engineered organisms in areas such as agriculture, medicine and environmental clean-up.
Two US teams have produced genetically modified (GM) bacteria that depend on a protein building block an amino acid that does not occur in nature. The bacteria thrive in the laboratory, growing robustly as long as the unnatural amino acid is included in their diet. But several experiments involving 100billion or more cells and lasting up to 20days did not reveal a single microbe capable of surviving in the absence of the artificial supplement.
Our strains, to the extent that we can test them, wont escape, says Dan Mandell, a synthetic biologist at Harvard Medical School in Boston, Massachusetts, and an author on one of the two studies describing the strategy.
The microbes also do not swap their engineered DNA with natural counterparts because they no longer speak lifes shared biochemical language. Establishing safety and security from the get-go will really enable broad and open use of engineered organisms, says Farren Isaacs, a synthetic biologist at Yale University in New Haven, Connecticut, who led the other study.
Biocontainment could provide added safety in the biological production of drugs or fuels, where microbes can be kept separate from their surroundings. But the modified bacteria could also permit controlled release into the human body or the environment. Containment might no longer be of the physical kind, says Tom Ellis, a synthetic biologist at Imperial College London who was not involved in the research.
The new technique originated in the laboratory of George Church, a geneticist at Harvard Medical School. Two years ago, Church and his team (which included Isaacs) reported the synthesis of a strain of Escherichia coli that had a reprogrammed genetic code3. Instead of recognizing a particular DNA triplet known as the amber stop codon as an order to terminate protein synthesis, the recoded bacterium read the same instruction as a directive to incorporate a new kind of amino acid into its proteins.
Church and Isaacs have independently made this engineered microbe reliant on unnatural amino acids. The Isaacs team used genomic sequencing to identify sites in essential bacterial proteins where the microbes could incorporate synthetic amino acids without affecting overall function, whereas Churchs group started with the protein structures and added elements to help integrate and accommodate the artificial amino acids.
This is really the culmination of a decade of work, says Church.
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GM microbes created that cant escape the lab
Cloning & Genetic Engineering – Video
Future of Food – film animation – Video
Future of Food - film animation
Film documentary produced by Lily Films. I conferred with experts while helping design depictions of the stages of genetic engineering process. Integrated a wide variety of source materials...
By: Kyle Kosup
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Future of Food - film animation - Video
Jamie Metzl: The US-China Rivalry at the Genetic Frontier (11/12/2014) – Video
Jamie Metzl: The US-China Rivalry at the Genetic Frontier (11/12/2014)
Jamie Metzl, Novelist; Former U.S. Security Official Bruce Pickering, Ph.D., Executive Director, The Asia Society of Northern California Moderator Novelist...
By: Commonwealth Club
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Jamie Metzl: The US-China Rivalry at the Genetic Frontier (11/12/2014) - Video
How do people post important life events on Facebook?
IMAGE:Cyberpsychology, Behavior, and Social Networking is an authoritative peer-reviewed journal published monthly online with Open Access options and in print that explores the psychological and social issues surrounding the Internet... view more
Credit: Mary Ann Liebert, Inc., publishers
New Rochelle, NY, January 20, 2015--When Facebook users share information on important life events, do they prefer to do so directly (detailed status updated or wall posts) or indirectly (photos, change of job title)? How a person chooses to share such news depends on whether the event is positive or negative, according to a new study published in Cyberpsychology, Behavior, and Social Networking, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The article is available free on the Cyberpsychology, Behavior, and Social Networking website until February 20, 2015.
In the article "How Are Important Life Events Disclosed on Facebook? Relationships with Likelihood of Sharing and Privacy," Jennifer Bevan and coauthors, Chapman University, Orange, CA, focus on significant life events related to romantic relationships, health, work, and school. They report that the specific event itself did not determine how an individual would share the news on Facebook, rather whether it was positive or negative. Users tended to share positive life events indirectly and negative life events directly.
"As social networking sites become more a part of our daily lives, understanding of the delicate dance between negotiating disclosure while maintaining some level of privacy is vital," says Editor-in-Chief Brenda K. Wiederhold, PhD, MBA, BCB, BCN, Interactive Media Institute, San Diego, California and Virtual Reality Medical Institute, Brussels, Belgium.
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About the Journal
Cyberpsychology, Behavior, and Social Networking is an authoritative peer-reviewed journal published monthly online with Open Access options and in print that explores the psychological and social issues surrounding the Internet and interactive technologies, plus cybertherapy and rehabilitation. Complete tables of contents and a sample issue may be viewed on the Cyberpsychology, Behavior, and Social Networking website.
About the Publisher
Mary Ann Liebert, Inc., publishers is a privately held, fully integrated media company known for establishing authoritative peer-reviewed journals in many promising areas of science and biomedical research, including Games for Health Journal, Telemedicine and e-Health, and Journal of Child and Adolescent Psychopharmacology. Its biotechnology trade magazine, Genetic Engineering & Biotechnology News (GEN), was the first in its field and is today the industry's most widely read publication worldwide. A complete list of the firm's 80 journals, books, and newsmagazines is available on the Mary Ann Liebert, Inc., publishers website.
Does gestational diabetes affect the therapeutic potential of umbilical cord-derived stem cells?
IMAGE:Stem Cells and Development is an authoritative peer-reviewed journal published 24 times per year in print and online. The journal is dedicated to communication and objective analysis of developments in... view more
Credit: Mary Ann Liebert, Inc., publishers
New Rochelle, NY, January 20, 2015-- Multipotent cells isolated from the human umbilical cord, called mesenchymal stromal cells (hUC-MSCs) have shown promise for use in cell therapy to treat a variety of human diseases. However, intriguing new evidence shows that hUC-MSCs isolated from women with gestational diabetes demonstrate premature aging, poorer cell growth, and altered metabolic function, as reported in an article in Stem Cells and Development, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The article is available free on the Stem Cells and Development website until February 17th, 2015.
Jooyeon Kim and coauthors from University of Ulsan College of Medicine, Kyung Hee University College of Medicine, and Seoul National University Bundang Hospital, Seoul, Korea, compared the growth and viability characteristics of hUC-MSCs from the umbilical cords of pregnant women with and without gestational diabetes. They evaluated cell growth, cellular senescence, mitochondrial function-related gene expression as a measure of metabolic activity, and the stem cells' ability to differentiate into various cell types such as bone and fat cells. They report their findings in the article "Umbilical Cord Mesenchymal Stromal Cells Affected by Gestational Diabetes Mellitus Display Premature Aging and Mitochondrial Dysfunction."
"We are only just beginning to scratch the surface of understanding how environmental and gestational stressors of all kinds affect stem cell populations," says Editor-in-Chief Graham C. Parker, PhD, The Carman and Ann Adams Department of Pediatrics, Wayne State University School of Medicine, Detroit, MI. "The work described offers a non-invasive assay to help determine risk of developmental clinical vulnerability."
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About the Journal
Stem Cells and Development is an authoritative peer-reviewed journal published 24 times per year in print and online. The Journal is dedicated to communication and objective analysis of developments in the biology, characteristics, and therapeutic utility of stem cells, especially those of the hematopoietic system. A complete table of contents and free sample issue may be viewed on the Stem Cells and Development website.
About the Publisher
Mary Ann Liebert, Inc., publishers is a privately held, fully integrated media company known for establishing authoritative peer-reviewed journals in many promising areas of science and biomedical research, including Cellular Reprogramming, Tissue Engineering, and Human Gene Therapy. Its biotechnology trade magazine, Genetic Engineering & Biotechnology News (GEN), was the first in its field and is today the industry's most widely read publication worldwide. A complete list of the firm's 80 journals, books, and newsmagazines is available on the Mary Ann Liebert, Inc., publishers website.
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Does gestational diabetes affect the therapeutic potential of umbilical cord-derived stem cells?
Monkey Cage: Why you can ignore that survey showing Americans want to label food containing DNA
Heres the headline:
80% Of Americans Support Mandatory Labels On Foods Containing DNA. DNA!
Hahaha! Americans are so dumb etc etc. As Robbie Gonzalez writes, Not GMOs. DNA, the genetic material contained in every living thing known to science and practically every food . . . The results smack of satire, but theyre real. . . . The results indicate that most Americans do not understand the difference between DNA and a genetically modified food. . . . The survey results are also symptomatic of chemophobia, an irrational fear of chemicals . . .
I dont buy it. I agree with Thomas Lumley, who writes:
Theres no way this is a sensible question about government policies: it isnt a reasonable policy or one that has been under public debate. Most foods will contain DNA, the exceptions being distilled spirits, some candy, and (if you dont measure too carefully) white rice and white flour. Nevertheless, 80% of people were in favour.
There was also a question Do you support mandatory labeling for foods produced with genetic engineering. This got 82% support.
It seems most likely that many respondents interpreted these questions as basically the same: they wanted labelling for food containing DNA that was added or modified by genetic engineering.
As Lumley puts it:
If you ask a question that is nuts when interpreted precisely, but is basically similar to a sensible question, people are going to answer the question they think you meant to ask. People are helpful that way, even when it isnt helpful.
As the philosopher H. P. Grice noted many years ago, people try to give informative answers. And this leads to problems when you try to directly interpret the responses to trick survey questions. The psychologist Gerd Gigerenzer has made related points in the context of tricky psychology experiments that make people look really foolish. Sometimes a respondent will look foolish in the context of trying to solve an artificial problem. Or, as Lumley writes, Ask a silly question, get a silly answer.
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Monkey Cage: Why you can ignore that survey showing Americans want to label food containing DNA
Does Orange Juice Have To Genetically Modify Or Die?
Everybody loves Florida orange juice. Since its emergence in the late 1940s, the sunny beverage has survived hurricanes and anti-sugar diet crazes to become as common on American breakfast tables as scrambled eggs.
But Floridas citrus industry is facing a new existential threat: Citrus greening, a bacterial disease spread by an insect called the Asian citrus psyllid, is killing Floridas citrus trees. The disease emerged in 2005 and since then citrus production has slowed. Last year Florida produced only 104.4 million boxes of orangesits lowest in about 30 years.
Researchers and industry experts say they have a potential solution: genetic engineering. Texas A&M University and University of Florida researchers are separately testing GMO citrus. Erik Mirkov, a plant pathologist at Texas A&M AgriLife Research and Extension Center who has been working on solutions to citrus greening for nine years, has developed an approach that uses spinach defensins to strengthen oranges resistance to greening.
Mirkov says if Americans want to keep orange juice on their tables, genetic engineering is the best option. "Greening is in Florida and Brazil, so the two biggest producers of oranges in the world could potentially not be able to grow them anymore," Mirkov says. "In a case like this, its not a nice-to-have, its a must-have."
But will Americans want their OJ with a side of spinach? Thats still up for debate, especially as questions about the safety of GMO foods continue. Opponents say those who want to save the citrus industry need to look elsewhere and explore non-GMO optionssuch as organic growing and using parasites to the kill the citrus psyllidwhich promote sustainable control of the disease. Genetic engineering could be a game-changer for the citrus industry, but it also could be an uphill battle to get GMO oranges from research labs to supermarket shelves to kitchen tables.
Citrus greening is a blow to an already-ailing industry. Orange juice consumption hit an 18-year low this year, and consumers increasingly have more exotic fruit juice options such as acai berry, but lower production also has affected sales.
Citrus greening is undoubtedly part of the problem. Most of the worlds citrus-producing regions, including several Asian countries, Brazil, Florida, Texas and California, have experienced greening. The disease begins in a citrus trees roots, infecting a tree before a grower can do anything to stop it, making an otherwise healthy fruit resemble a weird hybrid of a lime and orange.
"Greening disease has been in the world for a long time. Its been around for as long as it has and we havent found a non-GE cure to date," says Rick Kress, president of Southern Gardens Citrus, the worlds largest supplier of pure Florida orange juice. "Every researcher that is aware of this disease has said the ultimate solution is going to be genetic engineering."
Mirkov and Jude Grosser, a researcher at the University of Florida, agree. Mirkov is working closely with Southern Gardens Citrus, and his approach has been used on the most commonly grown oranges, grapefruits and popular lemon varieties in Texas and Florida. So far, spinach defensins have made many trees resistant to greening and others more tolerant to it, meaning they have the bacteria at lower levels than a conventional citrus tree and can still bear fruit.
Grossers research explores both GMO and conventional breeding approaches. On the GMO side, Grossers team has scoured the plant kingdom to find genes that can be introduced to citrus trees to improve their resistance. Though researchers will need to go through a thorough regulatory process to ensure GMO citrus meets the same standard as the normal fruits, Grosser says only one foreign gene is being added to the plant, so there shouldnt be a significant difference between the two. Whether consumers agree is another issue.
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Does Orange Juice Have To Genetically Modify Or Die?
OMD Genetic Engineering – Saturday Superstore – Video
OMD Genetic Engineering - Saturday Superstore
Here we have a very old and rare clip of Orchestral Manoeuvres in the Dark on the Saturday Superstore and they are doing Genetic Engineering.
By: Neil Taylor
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'Molecular scissors' could prevent genetic diseases before conception
20 hours ago by Vicky Just The technique can edit DNA at the point of fertilisation, speeding up the process of genetic research
Scientists from our Department of Biology & Biochemistry have developed a new technique that will streamline biomedical research and could in the future prevent genetic diseases before the moment of conception.
In a study published in the Nature Group journal Scientific Reports, the scientists used 'molecular scissors' that can edit the DNA of either the egg or sperm of mice during fertilisation.
The researchers used the enzyme Cas9 to cut a precise point in the genome, enabling them accurately to inactivate a specific gene. This allows scientists to study specified gene function in mice by creating a 'knock-out' in closer to one month rather than the six required using conventional techniques.
This powerful tool should accelerate biomedical research and promises to reduce the number of animals used in experiments to answer fundamental medical questions.
Dr Tony Perry, the study's senior author at the University's Laboratory of Mammalian Molecular Embryology, explained: "We're really excited about this research. Previously, this technique had been demonstrated with established embryos but we've shown that we can accurately edit genes in the sperm or egg around the time of fertilisation, just as the embryo is starting to develop.
"Cas9 works by cutting the DNA at a precise point in the genome. The cell repairs this cut but chews the frayed ends before rejoining them, destroying the function of the gene.
"The technique has many exciting potential applications. It could help to provide disease resistance to livestock or perhaps provide a method for preventing serious genetic conditions in humans at the point of conception - for example by allowing carriers of life-threatening genetic conditions such as cystic fibrosis to conceive healthy babies without the risk of passing on the disease."
Researchers anticipate that the method could also be used to enable the transplant of organs of some large animals into humans without the problem of rejection, by making the organs immunologically invisible.
Dr Perry added: "This is a dream for transplant surgeons and patients awaiting immunologically matched organs. It means that one day it may be possible to transplant these engineered organs - even if only until a suitable human one is found - and save lives."
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'Molecular scissors' could prevent genetic diseases before conception
AP Bio Project Genetic Engineering – Video
AP Bio Project Genetic Engineering
It #39;s epic, watch... Ms. Kenna #39;s Class!
By: Jimbo Jones
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AP Bio Project Genetic Engineering - Video
Morning Star :: 50,000 protest in Berlin to protect farming from big business
Over 50,000 people took to the streets of the German capital Berlin on Saturday to demand that the government changes its farming policy and halt the increasing industrialisation of agriculture.
The mass protest against factory farming and genetic engineering of crops was timed to coincide with International Green Week, an agricultural trade fair held annually in the city.
Under the slogan: We are sick of agribusiness, protesters called for a worldwide right to food, legal restrictions to protect food and agriculture from genetic manipulation and an end to the establishment of mega-factory farms.
The protesters marched from Potsdam Square to the Federal Chancellery demanding rejection of the planned Transatlantic Trade and Investment Partnership (TTIP) agreement between the European Union and the US.
Jochen Fritz, spokesman for the alliance of more than 120 environmental, consumer and development organisations behind the protest, said that TTIP would ruin many farmers livelihoods.
TTIP only serves global concerns and will take away the means of existence from many farms here and across the world, he said.
Mr Fritz added that the agreement would also jeopardise consumer standards and that more than three-quarters of German pig farmers had had to give up their businesses since 2000, with large meat companies increasingly taking over livestock farming.
He called for agriculture to be based on regional markets.
Eating is political. Every single decision I make about what to buy is determined by how the animals are kept or
what grows in our fields, he added.
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Morning Star :: 50,000 protest in Berlin to protect farming from big business
Thousands protest in Berlin against industrialized farming
Tens of thousands of people took to the streets of the German capital, Berlin, on Saturday, calling on the government to change course with its farming policies and protesting against an increasing industrialization of agriculture.
Organizers said some 50,000 people attended the rally, which took place during the International Green Week, an agricultural trade fair held annually in Berlin. Police were more sober with their estimate of 25,000 participants, saying that the protest remained peaceful.
Under the motto "We are sick of agribusiness," protesters called for a worldwide right to food, legal restrictions to protect food and agriculture from genetic manipulation and a stop to the building of mega-factory farms.
TTIP under fire
Protesters, who marched from Potsdam Square to the Federal Chancellery, also demanded the rejection of the planned TTIP free-trade agreement between the European Union and the USA.
The spokesman for the alliance of more than 120 environmental, consumer and development organizations behind the protest, Jochen Fritz, said TTIP would ruin the livelihood of many farmers.
"The EU-USA trade agreement TTIP only serves global concerns, and will take away the means of existence from many farms here and across the world," he said, adding that the agreement would also jeopardize consumer standards.
The EU and US have been holding negotiations on the TTIP since July 2013. Its advocates say a free-trade zone would give an enormous boost to economies on both sides of the Atlantic, but critics in Europe fear a drop in consumer protection and food safety standards.
'Protests having effect'
Fritz also criticized agricultural policies in Germany, saying that they had forced more than three quarters of German pig farmers to give up their businesses since 2000, with large meat companies increasingly taking over livestock farming. He called for agriculture on the basis of regional markets.
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Thousands protest in Berlin against industrialized farming
New genetic clues found in fragile X syndrome
Scientists have gained new insight into fragile X syndrome -- the most common cause of inherited intellectual disability -- by studying the case of a person without the disorder, but with two of its classic symptoms.
In patients with fragile X, a key gene is completely disabled, eliminating a protein that regulates electrical signals in the brain and causing a host of behavioral, neurological and physical symptoms. This patient, in contrast, had only a single error in this gene and exhibited only two classic traits of fragile X -- intellectual disability and seizures -- allowing the researchers to parse out a previously unknown role for the gene.
"This individual case has allowed us to separate two independent functions of the fragile X protein in the brain," said co-senior author Vitaly A. Klyachko, PhD, associate professor of cell biology and physiology at Washington University School of Medicine in St. Louis. "By finding the mutation, even in just one patient, and linking it to a partial set of traits, we have identified a distinct function that this gene is responsible for and that is likely impaired in all people with fragile X."
The research, appearing in the Proceedings of the National Academy of Sciences (PNAS) Online Early Edition in December and in the print issue Jan. 5, is by investigators at Washington University and Emory University School of Medicine in Atlanta.
In studying fragile X, researchers' focus long has been on the problems that occur when brain cells receive signals. Like radio transmitters and receivers, brain cells send and receive transmissions in fine tuned ways that separate the signals from the noise. Until recently, most fragile X research has focused on problems with overly sensitive receivers, those that allow in too much information. The new study suggests that fragile X likely also causes overactive transmitters that send out too much information.
"The mechanisms that researchers have long thought were the entirety of the problem with fragile X are obviously still very much in play," Klyachko said. "But this unique case has allowed us to see that something else is going on."
The finding also raises the possibility that drugs recently tested as treatments for fragile X may be ineffective, at least in part, because they only dialed down the brain's receivers, presumably leaving transmitters on overdrive.
Fragile X syndrome results from an inherited genetic error in a gene called FMR1. The error prevents the manufacture of a protein called FMRP. Loss of FMRP is known to affect how cells in the brain receive signals, dialing up the amount of information allowed in. The gene is on the X chromosome, so the syndrome affects males more often and more severely than females, who may be able to compensate for the genetic error if their second copy of FMR1 is normal.
Patients with fragile X have a range of symptoms. One of the mysteries of the syndrome is how loss of a single gene can lead to such a variety of effects in different patients. Some patients are profoundly intellectually disabled, unable to talk or communicate. Others are only mildly affected. Patients often experience seizures, anxiety and impulsive behavior. Typical physical symptoms include enlarged heads, flat feet and distinctive facial features. Almost one-third of patients with fragile X also show symptoms of autism spectrum disorders.
To gain insight into what else FMRP might do, the researchers plumbed genetic sequencing data from more than 900 males with intellectual disabilities but without classic fragile X syndrome. They looked for mutations in the FMR1 gene that might impair the protein but not eliminate it entirely. Even in this relatively large sample size, they only found one patient with abnormal FMRP, resulting from a change in a single letter of the gene's DNA code.
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