Mitochondrial pathology in inclusion body myositis

Highlights • Cytochrome c oxidase deficiency in inclusion body myositis is caused by multiple mtDNA deletions. • Single nucleotide variants in genes controlling mtDNA maintenance may cause mtDNA deletions. • Multiple variants in nuclear genes controlling mtDNA were identified in inclusion body myosi...

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Veröffentlicht in:	Neuromuscular disorders : NMD 2015-04, Vol.25 (4), p.281-288
Hauptverfasser:	Lindgren, Ulrika, Roos, Sara, Hedberg Oldfors, Carola, Moslemi, Ali-Reza, Lindberg, Christopher, Oldfors, Anders
Format:	Artikel
Sprache:	eng
Schlagworte:	Aged Aged, 80 and over ANT1 Cell Size CHILDHOOD Clinical Neurology Cytochrome c oxidase deficiency Cytochrome-c Oxidase Deficiency - genetics Cytochrome-c Oxidase Deficiency - pathology DEPLETION DIAGNOSIS DNA DELETIONS DNA Helicases - genetics DNA Polymerase gamma DNA, Mitochondrial DNA-Directed DNA Polymerase - genetics Female Humans Inclusion body myositis Male Middle Aged Mitochondrial DNA Mitochondrial Proteins - genetics mtDNA Muscle Fibers, Skeletal - pathology MUTATIONS Myositis, Inclusion Body - genetics Myositis, Inclusion Body - pathology Neurology Neurosciences Neurovetenskaper PARKINSON-DISEASE PATHOGENESIS POLG1 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Sequence Deletion SYNONYMOUS
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Zusammenfassung:	Highlights • Cytochrome c oxidase deficiency in inclusion body myositis is caused by multiple mtDNA deletions. • Single nucleotide variants in genes controlling mtDNA maintenance may cause mtDNA deletions. • Multiple variants in nuclear genes controlling mtDNA were identified in inclusion body myositis.
ISSN:	0960-8966 1873-2364
DOI:	10.1016/j.nmd.2014.12.010