A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms

Mitochondrion. 2013 Nov;13(6):656-61. doi: 10.1016/j.mito.2013.09.004. Epub 2013 Sep 22.


New mutations in mitochondrial DNA encoded genes of complex I are rarely reported. An infant developed Leigh disease with infantile spasms. Complex I enzyme activity was deficient and response to increasing coenzyme Q concentrations was reduced. Complex I assembly was intact. A new mutation in MT-ND1 m.3928G>C p.V208L, affecting a conserved amino acid in a critical domain, part of the coenzyme Q binding pocket, was present at high heteroplasmy. The unaffected mother did not carry measurable mutant mitochondrial DNA, but concern remained for gonadal mosaicism. Prenatal testing was possible for a subsequent sibling. The ND1 p.V208L mutation causes Leigh disease.

Keywords: Coenzyme Q binding; EEG; Electron transport chain complex 1; HRM; Infantile spasms; LHON; Leber hereditary optic neuropathy; Leigh disease; MELAS; ND1; PAGE; PCR; electroencephalogram; high resolution melt; mitochondrial DNA; mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes; mtDNA; polyacrylamide gel electrophoresis; polymerase chain reaction.

Publication types

  • Case Reports

MeSH terms

  • DNA, Mitochondrial / genetics*
  • Female
  • Humans
  • Infant
  • Leigh Disease / genetics*
  • Leigh Disease / physiopathology
  • Magnetic Resonance Imaging
  • Male
  • Mutation*
  • Pedigree
  • Spasm / etiology*


  • DNA, Mitochondrial