Article
A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant.
The Journal of pediatrics - 1 May 2018
Baertling Fabian, Sánchez-Caballero Laura, van den Brand Mariël A M, Distelmaier Felix, Janssen Mirian C H, Rodenburg Richard J T, Smeitink Jan A M, Nijtmans Leo G J
Abstract excerpt
We demonstrate that a heterozygous nuclear variant in the gene encoding mitochondrial complex I subunit NDUFV1 aggravates the cellular phenotype in the presence of a mitochondrial DNA variant in complex I subunit ND1. Our findings suggest that heterozygous variants could be more significant in inherited mitochondrial diseases than hitherto assumed.
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