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Mitochondrial pathology in inclusion body myositis

Journal article
Authors Ulrika Lindgren
Sara Roos
Carola Oldfors Hedberg
Ali-Reza Moslemi
Christopher Lindberg
Anders Oldfors
Published in Neuromuscular Disorders
Volume 25
Issue 4
Pages 281-288
ISSN 0960-8966
Publication year 2015
Published at Institute of Biomedicine, Department of Pathology
Pages 281-288
Language en
Links dx.doi.org/10.1016/j.nmd.2014.12.01...
Keywords Inclusion body myositis, Mitochondrial DNA, mtDNA, Cytochrome c oxidase deficiency, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, DNA DELETIONS, SYNONYMOUS, MUTATIONS, PARKINSON-DISEASE, DIAGNOSIS, POLG1, PATHOGENESIS, CHILDHOOD, DEPLETION, ANT1, Clinical Neurology, Neurosciences
Subject categories Neurosciences

Abstract

Inclusion body myositis (IBM) is usually associated with a large number of cytochrome c oxidase (COX)-deficient muscle fibers and acquired mitochondrial DNA (mtDNA) deletions. We studied the number of COX-deficient fibers and the amount of mtDNA deletions, and if variants in nuclear genes involved in mtDNA maintenance may contribute to the occurrence of mtDNA deletions in IBM muscle. Twenty-six IBM patients were included. COX-deficient fibers were assayed by morphometry and mtDNA deletions by qPCR. POLG was analyzed in all patients by Sanger sequencing and C10orf2 (Twinkle), DNA2, MGME1, OPA1, POLG2, RRM2B, SLC25A4 and TYMP in six patients by next generation sequencing. Patients with many COX-deficient muscle fibers had a significantly higher proportion of mtDNA deletions than patients with few COX-deficient fibers. We found previously unreported variants in POLG and C10orf2 and IBM patients had a significantly higher frequency of an RRM2B variant than controls. POLG variants appeared more common in IBM patients with many COX-deficient fibers, but the difference was not statistically significant. We conclude that COX-deficient fibers in inclusion body myositis are associated with multiple mtDNA deletions. In IBM patients we found novel and also previously reported variants in genes of importance for mtDNA maintenance that warrants further studies. (C) 2014 Elsevier B.V. All rights reserved.

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