Article
Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression.
eLife - 19 Apr 2017
Rocha Nuno, Bulger David A, Frontini Andrea, Titheradge Hannah, Gribsholt Sigrid Bjerge, Knox Rachel, Page Matthew, Harris Julie, Payne Felicity, Adams Claire, Sleigh Alison, Crawford John, Gjesing Anette Prior, Bork-Jensen Jette, Pedersen Oluf, Barroso Inês, Hansen Torben, Cox Helen, Reilly Mary, Rossor Alex, Brown Rebecca J, Taylor Simeon I, McHale Duncan, Armstrong Martin, Oral Elif A, Saudek Vladimir, O'Rahilly Stephen, Maher Eamonn R, Richelsen Bjørn, Savage David B, Semple Robert K
Abstract excerpt
MFN2 encodes mitofusin 2, a membrane-bound mediator of mitochondrial membrane fusion and inter-organelle communication. MFN2 mutations cause axonal neuropathy, with associated lipodystrophy only occasionally noted, however homozygosity for the p.Arg707Trp mutation was recently associated with upper body adipose overgrowth. We describe similar massive adipose overgrowth with suppressed leptin expression in four...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.