Article
A Ser311Cys mutation in the human dopamine receptor D2 gene is associated with reduced energy expenditure.
Diabetes - 1 Apr 2001
Tataranni P A, Baier L, Jenkinson C, Harper I, Del Parigi A, Bogardus C
Abstract excerpt
Brain dopaminergic pathways play a major role in the control of movement. Absence of the murine dopamine D2 receptor gene (drd2) produces bradykinesia and hypothermia. A Ser311Cys mutation of the human DRD2 produces a marked functional impairment of the receptor and is associated with higher BMI in some populations. We hypothesized that the Ser311Cys mutation of DRD2 may inhibit energy expenditure. Here we report...
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