Progeria is a rare genetic childhood disorder characterized by the appearance of accelerated aging. The classical form of progeria, called Hutchinson-Gilford Progeria Syndrome (HGPS), is caused by a spontaneous mutation, which means that it is not inherited from the parents. …
The protein, called TR4 (testicular orphan nuclear receptor 4), is one of the human body’s 48 nuclear receptors, a class of proteins found in cells that are responsible for sensing hormones and, in response, regulating the expression of specific genes. Using a genome scan, the Salk team discovered that TR4 regulates a gene that produces adrenocorticotropic hormone (ACTH), which is overproduced by pituitary tumors in Cushing’s disease (CD). …
The research, which was led by Yanming Wang, a Penn State University associate professor of biochemistry and molecular biology, and Denisa Wagner, senior author with decades of research on thrombosis at the Boston Children’s Hospital and the Harvard University Medical School, will be published in in the Online Early Edition of the journal Proceedings of the National Academy of Sciences during the week ending 10 May 2013. The team’s new findings are an extension of previous research by Wang and other scientists. In earlier studies, Wang and his colleagues had revealed that a gene in mice called Pad4 (peptidylarginine deiminase 4) produces an enzyme that plays an important role in protecting the body from infection. The researchers discovered that cells with a functioning PAD4 enzyme are able to build around themselves a protective, bacteria-killing web that is dubbed a NET (neutrophil extracellular trap)…