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Lookup NU author(s): Dr Amy Vincent,
Dr Martin Picard
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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.
Author(s): Vincent AE, Picard M
Publication type: Article
Publication status: Published
Journal: Journal of Pathology
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
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