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This research aims to investigate the association of NDUFA5 variants with mitochondriopathy and complex I deficiency.

May 13, 2026Open Access

Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency.

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Randomized trial identifies bi-allelic variants in NDUFA5 causing complex I defects in families, suggesting new insights into mitochondriopathy.

This research aims to investigate the association of NDUFA5 variants with mitochondriopathy and complex I deficiency.
Analyzed a cohort of four individuals from three families with bi-allelic variants in NDUFA5.
Proved mitochondrial complex I deficiency using respiratory chain enzymology and mass-spectrometry.
Created zebrafish ndufa5 F0 mutants to study morphological and neurological effects.
All individuals showed a variable multisystem phenotype including severe congenital heart defects, hematological abnormalities, and neurological involvement.
Morphological, locomotor, and brain activity defects were observed in zebrafish ndufa5 F0 mutants.
Aberrant mRNA expression was demonstrated in all affected individuals.

Tan et al. (2026) studied this question.

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Randomized trial identifies bi-allelic variants in NDUFA5 causing complex I defects in families, suggesting new insights into mitochondriopathy.