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Article

Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency.

Scientific reports - 15 Nov 2017

Ahmed Syeda T, Alston Charlotte L, Hopton Sila, He Langping, Hargreaves Iain P, Falkous Gavin, Oláhová Monika, McFarland Robert, Turnbull Doug M, Rocha Mariana C, Taylor Robert W

Abstract excerpt

Isolated Complex I (CI) deficiency is the most commonly observed mitochondrial respiratory chain biochemical defect, affecting the largest OXPHOS component. CI is genetically heterogeneous; pathogenic variants affect one of 38 nuclear-encoded subunits, 7 mitochondrial DNA (mtDNA)-encoded subunits or 14 known CI assembly factors. The laboratory diagnosis relies on the spectrophotometric assay of enzyme activity in...

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Source

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Identifiers

PMID: 29142257
DOI: 10.1038/s41598-017-14623-2
PMCID: PMC5688115

Genes

NDUFB8
NDUFS3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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