Human Biallelic MFN2 Mutations Induce Mitochondrial Dysfunction, Upper Body Adipose Hyperplasia, and Suppression of Leptin Expression

    March 2017
    Nuno Rocha, David A Bulger, Andrea Frontini, Hannah Titheradge, Sigrid Bjerge Gribsholt, Rachel Knox, Matthew J. Page, Julie R. Harris, Felicity Payne, Claire Adams, Alison Sleigh, John R. Crawford, Anette P. Gjesing, Jette Bork-Jensen, Oluf Pedersen, Inês Barroso, Torben Hansen, Helen Cox, Mary Reilly, Alexander M. Rossor, Rebecca J. Brown, Simeon I. Taylor, Duncan McHale, Martin Armstrong, Elif A Oral, Vladimı́r Saudek, Stephen O’Rahilly, Eamonn R. Maher, Bjørn Richelsen, David B. Savage, Robert Semple
    Studysummary This study reports that patients with specific MFN2 mutations, including p.Arg707Trp, exhibit significant upper body fat overgrowth with suppressed leptin production, suggesting tissue-selective mitochondrial dysfunction and potential therapeutic targets.
    Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
    Discuss this study in the Community →