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June 26

More Gene Mutations Linked to Autism Risk

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.
June 25

A Trio of Signals Converge to Induce Liver and Pancreas Cell Development in the Embryo

Distribution of the genetic regulatory protein, Smad4, in a mouse embryo at 8.5 days gestation.
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.
June 17

Appetite-Stimulating Hormone is First Potential Medical Treatment for Frailty in Older Women

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.

 

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