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Multilevel heterogeneity of mitochondrial respiratory chain deficiency

Lookup NU author(s): Dr Amy VincentORCiD, Dr Martin Picard

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Abstract

Copyright © 2018 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd. Mitochondrial diseases are heterogeneous multisystem disorders that show a mosaic pattern of mitochondrial respiratory chain dysfunction. The mitochondrial DNA (mtDNA) mutation load is heterogeneous at multiple levels: across organs, between cells, and between subcellular compartments. Such heterogeneity poses a diagnostic challenge, but also provides a scientific opportunity to explore the biological mechanisms underlying the onset and progression of these disorders. A recent article in the Journal of Pathology described a novel histochemical technique – nitro blue tetrazolium exclusion assay (NBTx) – to quantify mitochondrial cytochrome c oxidase (COX, or complex IV) deficiency. This technique is rapid, cost-effective, and quantitative, and is more sensitive than previous histochemical methods. It can also be applied across model organisms and human tissues. The NBTx method should therefore be a useful diagnostic tool, and may catalyze research examining the cellular and subcellular mechanisms that drive the onset and progression of inherited and acquired mtDNA disorders. Copyright © 2018 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

Publication metadata

Author(s): Vincent AE, Picard M

Publication type: Article

Publication status: Published

Journal: Journal of Pathology

Year: 2018

Volume: 246

Issue: 3

Pages: 261-265

Print publication date: 01/11/2018

Online publication date: 29/07/2018

Acceptance date: 25/07/2018

ISSN (print): 0022-3417

ISSN (electronic): 1096-9896

Publisher: John Wiley and Sons Ltd

URL: https://doi.org/10.1002/path.5146

DOI: 10.1002/path.5146

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