Endogenous mutations in human uncoupling protein 3 alter its functional properties

FEBS Letters

Dolan, Joseph W.¹  Argyropoulos, George²  Willi, Steven M.³  Brown, Angela M.²  Garvey, W.Timothy² 

[1] Department of Microbiology and Immunology, Medical University of South Carolina and the Ralph H. Johnson Veterans Affairs Medical Center, Charleston, SC 29425, USA;Department of Medicine, Division of Endocrinology, Medical University of South Carolina and the Ralph H. Johnson Veterans Affairs Medical Center, 114 Doughty Street, Charleston, SC 29425, USA;Department of Pediatrics, Medical University of South Carolina and the Ralph H. Johnson Veterans Affairs Medical Center, Charleston, SC 29425, USA

关键词: Mitochondrion;    Obesity;    Membrane potential;    UCP3;    UCP;    uncoupling protein;    XTT;    sodium salt of (2;    3-bis[2-methoxy-4-nitro-5-sulfophenyl]-2H-tetrazolium-5-carboxyanilide inner salt);    DiOC6;    3;    3′-dihexyloxacarbocyanine iodide;    EDTA;    ethylenediaminetetraacetic acid;    ΔΨ;    membrane potential;   

DOI  :  10.1016/S0014-5793(99)01708-1

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

Human uncoupling protein 3 (UCP3) is a mitochondrial transmembrane carrier that uncouples oxidative phosphorylation and is a candidate gene for obesity. Expression of native human UCP3 mutations in yeast showed complete loss (R70W), significant reduction (R143X), or no effect (V102I and IVS6+1G>A) on the uncoupling activity of UCP3. It is concluded that certain mutations in UCP3 alter its functional impact on membrane potential (ΔΨ), possibly conferring susceptibility to develop metabolic diseases.

【 授权许可】

Unknown