Phadke, R;
(2017)
Myopathology of Adult and Paediatric Mitochondrial Diseases.
Journal of Clinical Medicine
, 6
(7)
, Article 64. 10.3390/jcm6070064.
Preview |
Text
Myopathology of Adult and Paediatric Mitochondrial Diseases.pdf - Published Version Download (307kB) | Preview |
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 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.
| Type: | Article |
|---|---|
| Title: | Myopathology of Adult and Paediatric Mitochondrial Diseases |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.3390/jcm6070064 |
| Publisher version: | https://doi.org/10.3390/jcm6070064 |
| Language: | English |
| Additional information: | © 2017 by the Author. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
| Keywords: | mitochondrial, muscle biopsy, ragged red, COX-negative, subsarcolemmal, immunohistochemistry |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10095630 |
Archive Staff Only
 |
View Item |
