Daffodil International University
Faculty of Allied Health Sciences => Pharmacy => Topic started by: Shadia Afrin Brishti on September 20, 2014, 03:45:50 PM
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Harvard researchers have identified nine genetic variants that dramatically increase the risk of developing type 2 diabetes, adding to our knowledge of the disease’s underpinnings and providing a glimpse of its vast genetic diversity.
Amit Majithia, instructor in medicine at Harvard Medical School (HMS) and at Harvard-affiliated Massachusetts General Hospital and a researcher at the Broad Institute of MIT and Harvard, said the variants increase the risk of developing type 2 diabetes sevenfold, but are very rare in the population, found in just one in 1,000 individuals.
As significant, Majithia said, is the glimpse of genetic diversity in the single gene studied, called PPARG, which has been known to be associated with diabetes risk for 20 years.
Despite the scientific familiarity with the gene, the project’s scan of the genomes of 20,000 people from various international populations revealed 53 mutations, only four of which had been previously described. Further experimentation showed that nine of the 49 remaining mutations caused changes in key proteins that increased the risk of type 2 diabetes.
“These rare mutations are only seen in one in 1,000 individuals, but the effect on the individual is very strong because they increase risk by 700 percent,” Majithia said.
Majithia believes that the current research has uncovered just the tip of the iceberg with respect to mutations in this gene alone
The gene, which regulates the development of fat cells, encodes a protein made up of 500 amino acids. With 19 possible amino acids that could be plugged in at each position, there are nearly 10,000 possible mutations, Majithia said, making it highly likely that there are additional mutations — possibly many of them — that affect diabetes risk.