Genetics Of Type 2 Diabetes

SLC30A8 In a genome-wide case–control association study in a French cohort, Sladek and coworkers first reported association between Type 2 Diabetes and a missense mutation (R325W) in the solute carrier family 30 member 8 gene (SLC30A8) on chromosome 8q24.11. This finding has subsequently been replicated in other GWAS115–118 and more targeted replication studies. The risk

Transcription Factor 7-Like 2 (TCF7L2) Genome-wide linkage analysis identified a region of linkage to T2D on chromosome 10. Fine mapping localized marker DG10S478 of TCF7L2 on 10q25 that was strongly associated with T2D. TCF7L2 (formerly TCF4) encodes transcription factor 7-like 2, a member of the T cell transcription factor family. Further analysis identified a common

As described above, there have been significant advances in identifying genes responsible for monogenic diabetes and monogenic syndromes associated with diabetes. However, these forms represent no more than 2–5% of diabetes. Far more common is the polygenic form(s), broadly referred to as T2D, which has complex pathophysiology, with both genetic and environmental factors playing major

Syndromes of Extreme Insulin Resistance More than 70 mutations have been identified in the insulin receptor (INSR) gene in patients with syndromes of extreme insulin resistance.There are at least three clinical syndromes caused by homozygous or compound heterozygous mutations in the insulin receptor gene. Type A insulin resistance is defined by the presence of insulin

Mitochondria are intracellular organelles that are responsible for generating energy through the process of oxidative phosphorylation. These organelles have their own DNA which is circular about approximately 16 kb in length and maternally inherited. Mutations in mitochondrial DNA have characteristically been associated with neurologic and neuromuscular syndromes, but diabetes can also be a feature. The