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J Pathol. 2018 Nov;246(3):261-265. doi: 10.1002/path.5146. Epub 2018 Sep 25.

Multilevel heterogeneity of mitochondrial respiratory chain deficiency.

Author information

1
Wellcome Centre for Mitochondrial Research and Centre for Ageing and Vitality, Newcastle University, Newcastle upon Tyne, UK.
2
Department of Psychiatry, Division of Behavioral Medicine, Columbia University Medical Center, New York, New York, USA.
3
Department of Neurology and Columbia Translational Neuroscience Initiative, H. Houston Merritt Center, Columbia University Medical Center, New York, New York, USA.
4
Columbia University Aging Center, Columbia University, New York, New York, USA.

Abstract

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.

KEYWORDS:

COX deficiency; NBTx; biochemical; biopsy; cytochrome c oxidase; genetic; histochemistry; mitochondrial disease; mitochondrial disorder; skeletal muscle; subcellular

PMID:
30058194
DOI:
10.1002/path.5146

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