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[ New Treatment Direction For Rare Metabolic Diseases ]

New Treatment Direction For Rare Metabolic Diseases

A research team led by biochemist Scott Garman at the University of Massachusetts Amherst has discovered a key interaction at the heart of a promising new treatment for a rare childhood metabolic disorder known as Fabry disease. The discovery will help understanding of other protein-folding disorders such as Alzheimer's, Parkinson's and Huntington's diseases, as well. Findings are featured as the cover story in the current issue of Chemistry & Biology. People born with Fabry disease have a faulty copy of a single gene that codes for the alpha-galactosidase ( -GAL) enzyme, one of the cell's "recycling" machines. When it performs normally, -GAL breaks down an oily lipid known as GB3 in the cell's recycling center, or lysosome. But when it underperforms or fails, Fabry symptoms result.

What We Eat Can Alter The Brain Regions That Regulate Body Weight

An editorial authored by University of Cincinnati (UC) diabetes researchers published in the Feb. 7, 2012, issue of the journal Cell Metabolism sheds light on the biological factors contributing to rising rates of obesity and discusses strategies to reduce body weight. According to the U.S. Centers for Disease Control, about one-third of U.S. adults are obese, a number that continues to climb. "While we don't usually think of it this way, body weight is regulated. How much we weigh is influenced by a number of biological systems, and this is part of what makes it so hard for people to lose weight and keep it off, " says Randy Seeley, PhD, Donald C. Harrison Endowed Chair, director of the Cincinnati Diabetes and Obesity Center and author on the paper along with Karen Ryan, PhD, an assistant professor in endocrinology, diabetes and metabolism at UC.

Findings In Songbirds May Have Important Implications For Brain Degeneration In Humans

Colin Saldanha, a biology professor at American University in Washington, D.C., has always been intrigued by the hormone estrogen. Specifically, how the hormone that does so much (for example, it promotes sexual behavior in women but can also increase susceptibility to seizures) does not cause major cross circuit meltdowns. "In the extreme case, once every 28 days, women should be having seizures - and when they do, it's a condition called Catamenial Epilepsy - but that's obviously not the norm and there's the mystery, " Saldanha said. "Somehow, the vertebrate body has figured out a way to produce and provide estrogen to precisely the right part of the body at precisely the right time." To attempt to find out how the bodies of animals and humans can do this, Saldanha has been studying the brains of songbirds - specifically, adult male zebra finches.

New Drug Screening Identifies Chemical Agents With Potent Anti-Cancer Activity

Drugs already approved for clinical use across a variety of therapeutic categories can be screened to identify effective agents for thyroid cancer according to a recent study accepted for publication in the Endocrine Society's Journal of Clinical Endocrinology & Metabolism (JCEM). These findings could rapidly be implemented into a clinical trial to test how effective the treatment would be. The discovery of new chemical agents capable of modulating a disease is a long and expensive process. An alternative approach that is just beginning to be explored is the potential repurposing of already established drugs which have been approved for clinical use. The current study examined the newly assembled National Institutes of Health (NIH) Chemical Genomic Center's pharmaceutical collection, which contains 2, 816 approved drugs and bioactive compounds and sought to identify agents with an anti-cancer effect in thyroid cancer cell lines.

Anti-Obesity Drug Now In Clinical Trials May Cause Rapid Bone Loss

An endocrine hormone used in clinical trials as an anti-obesity and anti-diabetes drug causes significant and rapid bone loss in mice, raising concerns about its safe use, UT Southwestern Medical Center researchers have shown. The hormone, fibroblast growth factor 21 (FGF21), promotes bone loss by enhancing the activity of a protein that stimulates fat cells but inhibits bone cells, researchers report in a study available online in Proceedings of the National Academy of Sciences. "This hormone is a very potent regulator of bone mass, " said Dr. Yihong Wan, assistant professor of pharmacology and senior author of the study. "When we oversupply FGF21 in mice, it results in substantial bone loss." UT Southwestern scientists had been investigating this hormone's properties since its discovery in 2005 as a potential drug.

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