Mutation protects against diabetes
Antidiabetic mutations have been detected
Kirill Stasevich, CompulentaType 2 diabetes often develops against the background of overweight and old age – both are called one of the main diabetic risk factors.
However, it is also possible that risk factors do not provoke any diabetes, although an individual may be very complete and, moreover, at an age. Such cases are rare, but known, and the reason for this, as experts from the Broad Institute (USA) have shown, is a mutation in the SLC30A8 gene.
The only thing that was known about this gene was that it was important for the functioning of insulin-synthesizing cells of the pancreas. In addition, it has been known that some of its variants increase the risk of diabetes. But for a long time, no one could figure out what exactly needs to be done with this gene to reduce the likelihood of the disease: to strengthen its function or, conversely, to weaken it?
David Altshuler and several dozen of his colleagues from the USA and Europe came to SLC30A8 while searching for genetic factors that would act against diabetes. The researchers were looking for people who never got sick, despite powerful risk factors. Having found them, scientists began sequencing their genes, but not all of them, but those that were more or less related to diabetes.
As a result, they focused on SLC30A8, more precisely, on mutations that disabled its function. There were several mutations, the first was found in Swedes and Finns, the second in Icelanders, then others followed. These mutations acted independently of each other, reducing the risk of diabetes and reducing blood sugar without any negative side effects.
Until now, mutations suppressing the work of SLC30A8 (in experiments on mice), on the contrary, provoked diabetes, so scientists justified their results for a long time and carefully. In total, more than a dozen mutations were found, and they were found in a variety of ethnic groups. In general, as researchers write in Nature Genetics (Flannick et al., Loss-of-function mutations in SLC30A8 protect against type 2), the appearance of a defective SLC30A8 gene reduces the likelihood of type 2 diabetes by 65%.
SLC30A8 encodes the ZnT8 protein, which transports zinc to insulin-synthesizing beta cells of the pancreas.
Zinc is needed for the crystallization of insulin, but why the suppression of ZnT8 activity protects against diabetes, scientists do not yet know. On the one hand, it is somewhat surprising that disabling a gene/protein affects the body in a positive way, but it is quite possible that this positive effect is manifested precisely in conjunction with diabetic risk factors.
For medicine, these data are of great importance. It is unlikely, of course, that it will come to making mutations in the aforementioned gene, but to protect against diabetes, you can simulate the effect in some other way - and make life easier for those 300 million people around the world who suffer from type 2 diabetes.
Prepared based on the materials of the Broad Institute: Study pinpoints protective mutations for type 2 diabetes.
Portal "Eternal youth" http://vechnayamolodost.ru04.03.2014