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J. Clin. Med. 2017, 6(7), 64;

Myopathology of Adult and Paediatric Mitochondrial Diseases

Division of Neuropathology, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, UCLH NHS Foundation Trust, London WC1N 3BG, UK
Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK
Academic Editor: Jane Grant-Kels
Received: 12 June 2017 / Revised: 21 June 2017 / Accepted: 28 June 2017 / Published: 4 July 2017
Full-Text   |   PDF [300 KB, uploaded 4 July 2017]


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 unravelling 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. View Full-Text
Keywords: mitochondrial; muscle biopsy; ragged red; COX-negative; subsarcolemmal; immunohistochemistry mitochondrial; muscle biopsy; ragged red; COX-negative; subsarcolemmal; immunohistochemistry
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. (CC BY 4.0).

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Phadke, R. Myopathology of Adult and Paediatric Mitochondrial Diseases. J. Clin. Med. 2017, 6, 64.

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