Category Archives: Transhuman News

PUBLIC RELEASE DATE:

22-May-2014

Contact: Karin Eskenazi ket2116@cumc.columbia.edu 212-342-0508 Columbia University Medical Center

NEW YORK, NY (May 22, 2014) Researchers have discovered how a gene commonly linked to obesityFTOcontributes to weight gain. The study shows that variations in FTO indirectly affect the function of the primary cilium, a little-understood hair-like appendage on brain and other cells. Specific abnormalities of cilium molecules, in turn, increase body weight, in some instances, by affecting the function of receptors for leptin, a hormone that suppresses appetite. The findings, made in mice, suggest that it might be possible to modify obesity through interventions that alter the function of the cilium, according to scientists at Columbia University Medical Center (CUMC).

"If our findings are confirmed, they could explain how common genetic variants in the gene FTO affect human body weight and lead to obesity," said study leader Rudolph L. Leibel, MD, the Christopher J. Murphy Memorial Professor of Diabetes Research, professor of pediatrics and medicine, and co-director of the Naomi Berrie Diabetes Center at CUMC. "The better we can understand the molecular machinery of obesity, the better we will be able to manipulate these mechanisms and help people lose weight."

The study was published on May 6 in the online edition of Cell Metabolism.

Since 2007, researchers have known that common variants in the fat mass and obesity-associated protein gene, also known as FTO, are strongly associated with increased body weight in adults. But it was not understood how alterations in FTO might contribute to obesity. "Studies have shown that knocking out FTO in mice doesn't necessarily lead to obesity, and not all humans with FTO variants are obese," said Dr. Leibel. "Something else is going on at this location that we were missing."

In experiments with mice, the CUMC team observed that as FTO expression increased or decreased, so did the expression of a nearby gene, RPGRIP1L. RPGRIP1L is known to play a role in regulating the primary cilium. "Aberrations in the cilium have been implicated in rare forms of obesity," said Dr. Leibel. "But it wasn't clear how this structure might be involved in garden-variety obesity."

Dr. Leibel and his colleague, George Stratigopoulos, PhD, associate research scientist, hypothesized that common FTO variations in noncoding regions of the gene do not change its primary function, which is to produce an enzyme that modifies DNA and RNA. Instead, they suspected that FTO variations indirectly affect the expression of RPGRIP1L. "When Dr. Stratigopoulos analyzed the sequence of FTO's intronits noncoding, or nonprotein-producing, portionwe found that it serves as a binding site for a protein called CUX1," said Dr. Leibel. "CUX1 is a transcription factor that modifies the expression of RPGRIP1L."

Next, Dr. Stratigopoulos set out to determine whether RPGRIP1L plays a role in obesity. He created mice lacking one of their two RPGRIP1L genes, in effect, reducing but not eliminating the gene's function. (Mice that lack both copies of the gene have several serious defects that would obscure the effects on food intake.) Mice with one copy of RPGRIP1L had a higher food intake, gained significantly more weight, and had a higher percentage of body fat than controls.

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Study shows how common obesity gene contributes to weight gain

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Newswise BALTIMORE May 21, 2014. Researchers at the University of Maryland School of Medicine have identified a mutation in a fat-storage gene that appears to increase the risk for type 2 diabetes and other metabolic disorders, according to a study published online today in the New England Journal of Medicine.

The researchers discovered the mutation in the hormone-sensitive lipase (HSL) gene by studying the DNA of more than 2,700 people in the Old Order Amish community in Lancaster County, Pa. HSL is a key enzyme involved in breaking down stored fat (triglycerides) into fatty acids, thereby releasing energy for use by other cells.

We found that Amish people with this mutation have defects in fat storage, increased fat in the liver, high triglycerides, low "good" (HDL) cholesterol, insulin resistance and increased risk of developing type 2 diabetes, says the studys senior author, Coleen M. Damcott, Ph.D., an assistant professor of medicine in the Division of Endocrinology, Diabetes and Nutrition and member of the Program for Personalized and Genomic Medicine at the University of Maryland School of Medicine.

In this study, 5.1 percent of the Old Order Amish study participants had at least one copy of the mutation. Four people had two copies of the mutation and consequently produced no HSL enzyme, Dr. Damcott says. The mutation is less common in non-Amish Caucasians of European descent (0.2%), thus the higher prevalence of the mutation in the Amish makes it possible to characterize its full range of effects.

Future studies of this gene will allow us to look more closely at the effects of its deficiency on human metabolism to better understand the function of the HSL protein and its impact on fat and glucose metabolism, Dr. Damcott says. These studies will also examine the potential of using HSL as a drug target for treating type 2 diabetes and related complications.

She notes that type 2 diabetes is a complex disease whose susceptibility is often determined by interactions between genetics and lifestyle factors, such as overeating and physical inactivity. Susceptibility genes for diabetes may be involved in several different metabolic pathways in the body, including storage and release of fat for energy.

Discovery of this mutation adds to the growing list of insights gained from genomic studies that can be used to develop new treatments and customize existing treatments for type 2 diabetes and related metabolic disorders, Dr. Damcott says.

E. Albert Reece, M.D., Ph.D., M.B.A., vice president for medical affairs at the University of Maryland and the John Z. and Akiko K. Bowers Distinguished Professor and dean of the University of Maryland School of Medicine, says, This discovery offers intriguing new evidence of how genetics may play a role in how people develop type 2 diabetes and provides a possible target for medical intervention. Through our Program for Personalized and Genomic Medicine, we are always striving to devise effective therapies to fit an individuals genetic make-up.

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University of Maryland Researchers Identify Mutation in Fat-Storage Gene That Appears to Increase Type 2 Diabetes Risk

Researchers at Karolinska Institutet in Sweden have for the first time identified a gene driving the development of pernicious adipose tissue in humans. The findings imply, which are published in the scientific journal Cell Metabolism, that the gene may constitute a risk factor promoting the development of insulin resistance and type 2 diabetes.

Adipose tissue can expand in two ways: by increasing the size and/or the number of the fat cells. It is well established that subjects with few but large fat cells, so-called hypertrophy, display an increased risk of developing type 2-diabetes. In the current study, researchers identified a gene, EBF1, which according to these new findings drive the development of the unhealthy adipose tissue. This gene encodes a protein that controls a set of other genes, a so-called transcription factor, and regulates the formation of new fat cells as well as their metabolic function.

The investigators compared adipose tissue from subjects with small or large fat cells and found that EBF1 was closely linked to hypertrophy. Individuals with large fat cells had markedly lower EBF1 expression in their adipose tissue, displayed altered lipid mobilisation and were insulin resistant. Insulin resistance -- a condition characterised by reduced cellular response to the hormone insulin that is released when the blood glucose levels rise after a meal -- is an important causal factor underlying the increased risk of diabetes in individuals with hypertrophic adipose tissue. Insulin resistance leads to increased circulating levels of glucose and lipids in the blood.

In collaboration with Professor Mark C. Horowitz at Yale School of Medicine, U.S. the researchers also investigated genetically modified mice expressing lower levels of the murine variant of the human EBF1-gene. It turned out that these mice developed adipose hypertrophy and displayed increased lipid mobilisation from fat cells. When the mice were put on high-fat diet they became insulin resistant.

"Our findings represent an important step forward in the understanding of how adipose tissue links to the development of metabolic disease," comments Professor Peter Arner, one of the principal investigators at Karolinska Institutet along with Hui Gao, Niklas Mejhert and Mikael Rydn. "This is the first time someone has identified a gene which may cause malfunctioning adipose tissue in (hu)man. In the future, it might be possible to develop drugs that improve EBF1 function in adipose tissue, which could be used to treat type 2-diabetes."

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The above story is based on materials provided by Karolinska Institutet. Note: Materials may be edited for content and length.

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Gene behind unhealthy adipose tissue identified

Albany, New York (PRWEB) May 22, 2014

Gene therapy involves use of DNA as a pharmaceutical agent to treat diseases. It is one of the most important developments in the field of medicine that has potential to treat various lethal diseases such as HIV, cancer and cystic fibrosis. In the long run, biotechnology and clinical trial industries will benefit from developments in gene therapy and provide potential treatment solutions for various incurable diseases.

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In the present scenario, various pharmaceutical companies are using clinical data to validate the concept of gene therapy. Moreover, many venture capital investors are also showing their interest in gene therapy, and are investing heavily in its development. However, gene therapy is highly dependent on the regulatory approvals and most of the products are currently in clinical trial phase. Most of these gene therapy products are for cancer and cardiovascular diseases, and are in Phase III/ Phase II of clinical trials.

In addition, growing popularity of DNA vaccines boost advances in gene therapy and is likely to be practiced in clinics in the near future, with a number of therapy programs now in phase II/III trials, showing promising results.

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Some of the major players operating in the market are AnGes MG, BioSante Pharmaceuticals, GenVec, Genzyme Corporation, Oxford BioMedica, Transgene, Urigen Pharmaceuticals and Vical.

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This report provides comprehensive analysis of:

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Global Gene Therapy Market: Analysis, Size, Share, Growth, Trends and Forecast 2013 - 2019