Key result
Bi-allelic NDUFA5 variants linked to mitochondrial complex I deficiency and severe congenital heart defects.
Why the study?
Variants in NDUFA5 had not yet been associated with mitochondriopathy in humans, despite nuclear-encoded complex I deficiencies causing recognized conditions like Leigh syndrome and cardiomyopathy.
Design
Cohort and functional experimental study
Authors
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Prompts NDUFA5 testing in severe CHD with hematological and neurologic features; extends known causes of mitochondrial complex I deficiency.
This study provides the first evidence that bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency, presenting with severe congenital heart defects and other multisystem abnormalities.
Tan et al. (2026) studied this question. Bi-allelic variants in NDUFA5 cause mitochondrial complex I deficiency characterized by severe congenital heart defects, hematological abnormalities, and neurological involvement.
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