Brief Genetics Report: Expression of Naturally Occurring Variants in the Muscle Glycogen Synthase Gene

摘要

On the basis of accumulating biochemical and metabolic evidence, the muscle glycogen syn- thase (GS) gene (GYS1) can be considered an important candidate for skeletal muscle insulin resistance. In support of this hypothesis, an association between markers in the GYS1 gene on chromosome 19q13.3 (1) and type 2 diabetes has been found in Finnish, French, Japanese, and Pima Indian populations (2-5). Mutation Screening of the coding regions of the GYS1 gene has Revealed four amino acid variants: Gln71His, Met416Val, Pro442Ala, and Gly464Ser (6-9).