A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant

J Pediatr. 2018 May:196:309-313.e3. doi: 10.1016/j.jpeds.2017.12.043. Epub 2018 Feb 13.

Abstract

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.

Keywords: OXPHOS; inherited mitochondrial disease; mitochondrial DNA.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • DNA, Mitochondrial / genetics
  • Electron Transport Complex I / deficiency*
  • Electron Transport Complex I / genetics
  • Female
  • Genetic Testing / methods
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Male
  • Mitochondrial Diseases / diagnosis
  • Mitochondrial Diseases / genetics*
  • Mutation
  • NADH Dehydrogenase / genetics*
  • Phenotype

Substances

  • DNA, Mitochondrial
  • NDUFV1 protein, human
  • NADH Dehydrogenase
  • NADH dehydrogenase subunit 1, human
  • Electron Transport Complex I

Supplementary concepts

  • Mitochondrial complex I deficiency