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Showing posts from September 24, 2015

Hand Me Down Genes

In 1994, at age 27, Keira Berman became acutely ill with what she thought was the flu. She also had blood in her stool, an issue she had dealt with since childhood and assumed to be a reaction to certain foods. Berman’s physician sent her to a gastroenterologist, who detected thousands of polyps in her colon via colonoscopy. Neither her gastroenterologist nor his pathologist knew what the polyps were, so they sent slides to several universities, Berman recalls. Johns Hopkins University responded that, based on her age and the number of polyps in her colon, the New Jersey resident likely had a relatively rare hereditary syndrome known as familial adenomatous polyposis (FAP). The impact of the diagnosis was dramatic. Informed that the polyps in her colon would likely become cancerous soon, Berman underwent a total colectomy and ileoanal anastomosis surgery to construct a J pouch for waste elimination. In the years that followed, FAP affected almost every aspect of her life, from the foo...

PMS2

The  PMS2  gene provides instructions for making a protein that plays an essential role in repairing DNA. This protein helps fix errors that are made when DNA is copied (DNA replication) in preparation for cell division. The PMS2 protein joins with another protein called MLH1 (produced from the  MLH1  gene) to form a protein complex. This complex coordinates the activities of other proteins that repair errors made during DNA replication. Repairs are made by removing the section of DNA that contains errors and replacing it with a corrected DNA sequence. The  PMS2  gene is a member of a set of genes known as the mismatch repair (MMR) genes. Read More:   http://ghr.nlm.nih.gov/gene/PMS2#.VUvxgp_8TFg.facebook