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Multilevel heterogeneity of mitochondrial respiratory chain deficiency
Author(s) -
Vincent Amy E,
Picard Martin
Publication year - 2018
Publication title -
the journal of pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.964
H-Index - 184
eISSN - 1096-9896
pISSN - 0022-3417
DOI - 10.1002/path.5146
Subject(s) - mitochondrial dna , cytochrome c oxidase , mitochondrion , respiratory chain , mitochondrial disease , mitochondrial respiratory chain , biology , genetics , gene
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.