| Literature DB >> 25583094 |
Dianne Heloisa Bonfanti1, Larissa Pontes Alcazar1, Priscila Akemi Arakaki1, Laysa Toschi Martins1, Bruna Carla Agustini1, Fabiane Gomes de Moraes Rego1, Henrique Ravanhol Frigeri2.
Abstract
Diabetes mellitus is a public health problem, which affects a millions worldwide. Most diabetes cases are classified as type 2 diabetes mellitus, which is highly associated with obesity. Type 2 diabetes is considered a multifactorial disorder, with both environmental and genetic factors contributing to its development. An important issue linked with diabetes development is the failure of the insulin releasing mechanism involving abnormal activity of the ATP-dependent potassium channel, KATP. This channel is a transmembrane protein encoded by the KCNJ11 and ABCC8 genes. Furthermore, polymorphisms in these genes have been linked to type 2 diabetes because of the role of KATP in insulin release. While several genetic variations have been reported to be associated with this disease, the E23K polymorphism is most commonly associated with this pathology, as well as to obesity. Here, we review the molecular genetics of the potassium channel and discusses its most described polymorphisms and their associations with type 2 diabetes mellitus.Entities:
Keywords: ABCC8; E23K; I337V; KCNJ11; Obesity; Polymorphisms; Potassium channels; S1369A; T2DM
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Year: 2015 PMID: 25583094 DOI: 10.1016/j.clinbiochem.2014.12.026
Source DB: PubMed Journal: Clin Biochem ISSN: 0009-9120 Impact factor: 3.281