title: Mitochondrial disease: mtDNA and protein segregation mysteries in iPSCs.
abstract: Mitochondrial diseases cause a range of clinical manifestations even in patients carrying the same mtDNA mutations. New work reveals that a common disease-associated mtDNA mutation is selectively segregated from wild-type mtDNA during the reprogramming of induced pluripotent stem cells and that high levels of this mutation in differentiated neurons upregulate Parkin-mediated mitophagy.
authors.affiliation: Biochemistry Section, Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
authors.forename: Alicia M
authors.initials: AM
authors.lastname: Pickrell
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Youle
mesh_terms: D002454:Cell Differentiation; D002460:Cell Line; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000378:metabolism*; D008928:Mitochondria / Q000235:genetics*; D028361:Mitochondrial Diseases / Q000235:genetics*; D063306:Mitophagy / Q000235:genetics; D009154:Mutation; D009474:Neurons / Q000166:cytology; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein