Journal article
Mitochondrial Dysfunction in Neuromuscular Disorders
Seminars in pediatric neurology, v 20(3), pp 202-215
01 Sep 2013
PMID: 24331362
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
This review deciphers aspects of mitochondrial (mt) dysfunction among nosologically, pathologically, and genetically diverse diseases of the skeletal muscle, lower motor neuron, and peripheral nerve, which fall outside the traditional realm of mt cytopathies. Special emphasis is given to well-characterized mt abnormalities in collagen VI myopathies (Ullrich congenital muscular dystrophy and Bethlem myopathy), megaconial congenital muscular dystrophy, limb-girdle muscular dystrophy type 2 (calpainopathy), centronuclear myopathies, core myopathies, inflammatory myopathies, spinal muscular atrophy, Charcot-Marie-Tooth neuropathy type 2, and drug-induced peripheral neuropathies. Among inflammatory myopathies, mt abnormalities are more prominent in inclusion body myositis and a subset of polymyositis with mt pathology, both of which are refractory to corticosteroid treatment. Awareness is raised about instances of phenotypic mimicry between cases harboring primary mtDNA depletion, in the context of mtDNA depletion syndrome, and established neuromuscular disorders such as spinal muscular atrophy. A substantial body of experimental work, derived from animal models, attests to a major role of mitochondria (mt) in the early process of muscle degeneration. Common mechanisms of mt-related cell injury include dysregulation of the mt permeability transition pore opening and defective autophagy. The therapeutic use of mt permeability transition pore modifiers holds promise in various neuromuscular disorders, including muscular dystrophies. (C) 2013 Published by Elsevier Inc.
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Details
- Title
- Mitochondrial Dysfunction in Neuromuscular Disorders
- Creators
- Christos D. Katsetos - St. Christopher's Hospital for ChildrenSirma Koutzaki - Drexel UniversityJoseph J. Melvin - St. Christopher's Hospital for Children
- Publication Details
- Seminars in pediatric neurology, v 20(3), pp 202-215
- Publisher
- Elsevier
- Number of pages
- 14
- Grant note
- St. Christophers Foundation for Children
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Pediatrics
- Web of Science ID
- WOS:000328262000006
- Scopus ID
- 2-s2.0-84890154433
- Other Identifier
- 991019168668904721
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InCites Highlights
Data related to this publication, from InCites Benchmarking & Analytics tool:
- Web of Science research areas
- Clinical Neurology
- Pediatrics