Physicians in Massachusetts General Hospital and Harvard University have recognized mutations in a gene that can decrease the risk of developing type 2 diabetes, even in individuals who have threat factors such as old age and obesity.
A press release put out by the institutes stated that “the initial step to developing a novel therapy is discovering and validating a “drug target” – a human protein that, if triggered or inhibited, results in prevention and treatment of the disease.”
Type 2 diabetes is one of the largest public health issues: it impacts over 300 million individuals globally and is rising quickly in prevalence. India only is home to over 60 million individuals with diabetes.
In the new research, scientists describe the genetic analysis of 150,000 sufferers showing that rare mutations in a gene known as SLC30A8 decrease risk of type 2 diabetes by 65%. The outcomes were observed in individuals from multiple ethnic groups, indicating that a drug that mimics the effect of these mutations might have extensive utility around the globe. “The protein converted by SLC30A8 gene had earlier been shown to play an essential role in the insulin-secreting beta cells of the pancreas, and a common variant in that gene was identified to slightly impact the threat of type 2 diabetes.”
The research’s main author David Altshuler has stated that “human genetics is not just a tool for knowing biology, it can also strongly inform drug discovery by approaching one of the most challenging and essential questions – knowing which targets to go after.”
The protein encoded by SLC30A8 gene is a zinc efflux transporter engaged in the deposition of zinc in intracellular vesicles. This gene is indicated at a high level only in the pancreas, especially in islets of Langerhans. The encoded/converted protein colocalizes with insulin in the secretory pathway granules of the insulin-secreting INS-1 cells. Allelic versions of this gene exist that confer vulnerability to diabetes mellitus, noninsulin-dependent (NIDDM). Several transcript variants encoding various isoforms have been identified for this gene.