Review
Version 1
This version is not peer-reviewed
Pathology of Adult and Paediatric Mitochondrial Myopathies
Rahul Phadke
Version 1
: Received: 12 June 2017 / Approved: 13 June 2017 / Online: 13 June 2017 (06:23:36 CEST)
A peer-reviewed article of this Preprint also exists.
Phadke, R. Myopathology of Adult and Paediatric Mitochondrial Diseases. J. Clin. Med. 2017, 6, 64. Phadke, R. Myopathology of Adult and Paediatric Mitochondrial Diseases. J. Clin. Med. 2017, 6, 64.
Journal reference: J. Clin. Med. 2017, 6, 64
DOI: 10.3390/jcm6070064
Abstract
Mitochondria are dynamic organelles ubiquitously present in nucleated eukaryotic cells, subserving multiple metabolic functions, including cellular ATP generation by oxidative phosphorylation (OXPHOS). The OXPHOS machinery comprises five transmembrane respiratory chain enzyme complexes (RC). Defective OXPHOS gives rise to mitochondrial diseases (mtD). The incredible phenotypic and genetic diversity of mtD can be attributed at least in part to the RC dual genetic control (nuclear DNA [nDNA] and mitochondrial DNA [mtDNA]) and the complex interaction between the two genomes. Despite the increasing use of next-generation-sequencing (NGS) and various -omics platforms in unraveling novel mtD genes and pathomechanisms, current clinical practice for investigating mtD essentially involves a multipronged approach including clinical assessment, metabolic screening, imaging, pathological, biochemical and functional testing to guide molecular genetic analysis. This review addresses the broad muscle pathology landscape including genotype-phenotype correlations in adult and paediatric mtD, the role of immunodiagnostics in understanding some of the pathomechanisms underpinning the canonical features of mtD, and recent diagnostic advances in the field.
Subject Areas
mitochondrial; muscle biopsy; ragged red; COX-negative; subsarcolemmal; immunohistochemistry
Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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