[Two promising candidate genes in the ethiopathogenesis of DM2 - PPARgamma2 and KCNJ11].
Type 2 DM represents a multifactorial disease--both genetic and environmental factors are implicated in the etiology. In spite of an enormous effort, unraveling the genetics of type 2 DM has proved problematic. A polygenic inheritance is proposed for most cases. More than 250 candidate genes have been studied and increasing attention is being directed at two of them: the PPARgamma2 gene (peroxisome proliferator-activated receptor gama2) and KCNJ11 (potassium channel inwardly rectifying). The PPARgamma2 is a member of the nuclear hormone receptor subfamily of transcription factors. It plays a key role in regulation of adipocyte differentiation and energy balance. The KCNJ11 gene codes for a pore-forming subunit of the inwardly rectifying ATP sensitive K+ channel, which is involved in the direct regulation of insulin secretion. Here, recent knowledge regarding involvement of these two genes in complex metabolic pathways is summarized. In the whole review, we focus on the glucose homeostasis.
Vejrazková
D
D
Endokrinologický ustav, Praha. dvejrazkova@endo.cz
Bendlová
B
B
D003924:Diabetes Mellitus, Type 2 / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D009154:Mutation; D009765:Obesity / Q000150:complications / Q000235:genetics; D047495:PPAR gamma / Q000235:genetics* / Q000502:physiology; D011110:Polymorphism, Genetic; D015221:Potassium Channels / Q000502:physiology; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics* / Q000502:physiology; D000099161:Kcnj11 Channel
D047495:PPAR gamma; D015221:Potassium Channels; D024661:Potassium Channels, Inwardly Rectifying; D000099161:Kcnj11 Channel