PENN Medicine in the News

More Gene Mutations Linked to Autism Risk
26 Jun 2009
More pieces in the complex autism inheritance puzzle are emerging in the latest study from a research team including geneticists from the University of Pennsylvania School of Medicine, The Children’s Hospital of Philadelphia (CHOP), and several collaborating institutions. This study identified 27 different genetic regions where rare copy number variations – missing or extra copies of DNA segments – were found in the genes of children with autism spectrum disorders (ASDs), but not in the healthy controls. The complex combination of missing or extra copies of certain genes is thought to interfere with gene function, which can disrupt the production of proteins necessary for normal neurological development.

Trio of Signals Induces Liver and Pancreas Cell Development in the Embryo
25 Jun 2009
Understanding the molecular signals that guide early cells in the embryo to develop into different organs provides insight into ways that tissues regenerate and how stem cells can be used for new therapies. With regenerated cells, researchers hope to one day fill the acute shortage in pancreatic and liver tissue available for transplantation in cases of type I diabetes and acute liver failure.

Penn Muscle Institute Researchers Awarded $6.7 Million from NIH to Study Molecular Motors
24 Jun 2009
University of Pennsylvania School of Medicine scientists have been awarded $6.7 million from the National Institute of General Medical Sciences to investigate the role of molecular motors in cell biology. With this grant, the researchers will continue their studies of cytoskeletal motors that function in cellular processes of medical importance, including those implicated in neurological disorders and diabetes. Cytoskeletal motors are nano-scale molecular machines that drive the movements of components within cells.

Appetite-Stimulating Hormone is First Potential Medical Treatment for Frailty in Older Women
17 Jun 2009
Older women suffering from clinical frailty stand to benefit from the first potential medical treatment for the condition, according to a study presented last week by Penn Medicine researchers at ENDO, The Endocrine Society’s 91st Annual Meeting. Ghrelin, a hormone that stimulates appetite, was administered to older women diagnosed with frailty, a common geriatric syndrome characterized by unintentional weight loss, weakness, exhaustion and low levels of anabolic hormones which increases risk of falls, hospitalizations, disability, and death. Those who received ghrelin infusions consumed 51 percent more calories than the placebo group, with an increase in carbohydrate and protein intake, not fat. Their growth hormone levels were also higher throughout the ghrelin infusion.

Protein Structures from the Human Immune System’s Oldest Branch Shed Light on a Range of Diseases
17 Jun 2009
Researchers have determined the structure of C3 convertase and of the C3b fragment in complex with factor H. These new structures, both involving a central component of an enzyme important to the complement system of the immune response, reveal how this system fights invading microbes while avoiding problems of the body attacking itself.

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