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Scientists have discovered the first genetic variation in people with type 2 diabetes, which plays a role in insulin resistance. This international study led by Imperial College London is published in Nature Genetics and will view a new targeted therapy.

The genvariatie is found near the gene encoding the insulin receptor substrate 1 (IRS1). IRS1 gives a signal to the cell down to glucose from the blood to take following activation by insulin. The researchers found the gene variant disrupts this process so that the cell is less free to make energy from glucose.

Researchers led by Philippe Proguel were very excited about their discovery: “This is the first genetic evidence that a defect in insulin action in muscle may contribute to diabetes.” While several genetic variations previously found that insulin production in the pancreas upset.

The discovery is a result of a cascade trials, led by Imperial College London and institutions in Canada, France and Denmark. First do a French study in nearly 1400 individuals at over 16 thousand single-nucleotide polymorphisms (SNPs) that were associated with type 2 diabetes. A closer examination of these SNPs selected researchers have the strongest association with 28. These genetic variations were also seen again in a group of patients and ultimately identified four SNPs. The variation that the most obvious relationship with type 2 diabetes showed was then tested skeletspierbiopten of twins, one of whom had diabetes and the other does not. These researchers found evidence that the genvariatie near IRS1 was, caused insulin resistance and resulted in a lower production of the protein that was created by IRS1.