Mitochondrial abnormalities in myofibrillar myopathies

Clinical Neuropathology
Pushpa R JoshiFrank Hanisch

Abstract

Histological mitochondrial changes are generally found to be associated with late onset myofibrillar myopathies (MFMs). How these changes contribute to the pathogenesis of MFMs is unknown. Mitochondrial changes, including COX-deficient fibers (n = 8), biochemical activities of respiratory chain complexes (n = 7), and multiple mtDNA deletions by long-range PCR (n = 9) were examined in patients with genetically confirmed MFMs [MYOT (n = 2), DES (n = 1), ZASP (n = 2), FLNC (n = 4)] and compared with age and sex matched normal controls (n = 27) and patients with a mitochondrial disorder with multiple mtDNA deletions due to nuclear genetic defects (n = 8). In 2 MFM patients, micro dissected fibers were analyzed for multiple mtDNA deletions by nested long-range PCR. The COX-deficient fibers only partly corresponded with fibers containing myofibrillar accumulations. In total, there was no difference in the percentage of COX-deficient fibers in MFM patients and normal controls. However, the percentage of COX-deficient fibers was significantly higher in 3 MFM patients. Two MFM patients but none of the controls had multiple mtDNA deletions. Nested long-range PCR detected multiple mtDNA deletions only in COX-deficient fibers. Citrate synt...Continue Reading

Citations

Jul 25, 2015·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·S JacksonH Reichmann
Sep 13, 2016·Neuromuscular Disorders : NMD·Amy E VincentDoug M Turnbull
Aug 23, 2016·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Junjun ZhengDaojun Hong
Jul 11, 2018·Journal of the American Heart Association·Shafiul AlamMd Shenuarin Bhuiyan
Sep 29, 2020·Frontiers in Physiology·Shafiul AlamMd Shenuarin Bhuiyan

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