Scientists have identified a gene responsible for a rare form of endocrine tumor. The discovery, published in today's issue of Science * should lead to a genetic test for multiple endocrine neoplasia type 1 or MEN1, which strikes fewer than one in 10,000 and results in multiple benign tumors in the pituitary, parathyroid and pancreatic glands.
Stephen Marx of the National Institute of Diabetes and Digestive and Kidney Diseases in Bethesda, Maryland, and colleagues from two other National Institutes of Health (NIH) laboratory was hunting in 1994 for the team gene, including 8 years earlier had been located on chromosome 11, but then escaped detection. The researchers drew blood samples and tissues from members of 65 families affected by MEN1. They used a technique called positional cloning to reconstruct fragments of chromosome 11 DNA and identify particular extends to people with the disease. "We had to check about 33 genes that correspond to the chromosomal region, one that could have been," said Francis Collins, director of the Research Institute of the National Human Genome NIH. After screening for mutations in each candidate gene, the group at last revealed their careers :. A gene encoding a protein they called menin
endocrine gland cells multiply uncontrollably in adults with the mutated version of MEN1, the modus operandi that proves to be a tough nut to crack. It is "not like anything we've seen before," said Marx, adding that his group has no idea how healthy form Menin suppresses tumor growth. "This gene could be the first foray into a pathway of cellular regulation that we had no prior knowledge, "he said.
But even in the absence of an understanding of what NEM1 the fact, the discovery should lead to a test for the disease in which benign tumors trigger debilitating symptoms such as hyperparathyroidism - a deregulation of metabolism calcium which can cause kidney stones and bone loss. Lorraine Fitzpatrick said endocrinologist at the Mayo Clinic in Rochester, Minnesota, "This is important in terms of identifying who is at risk and work on ways to turn off the mutated gene."
* For details science online subscribers can link to the full text of the report.
0 Komentar