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

Carter Wray, Marisa W. Friederich, Desiree du Sart, Sarah Pantaleo, Joél Smet, Cathlin Kucera, Laura Fenton, Gunter Scharer, Rudy Van Coster, Johan L K Van Hove

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11 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)656-661
Number of pages6
JournalMitochondrion
Volume13
Issue number6
DOIs
Publication statusPublished - Nov 2013

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Keywords

  • Coenzyme Q binding
  • Electron transport chain complex 1
  • Infantile spasms
  • Leigh disease
  • ND1

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology
  • Molecular Medicine

Cite this

Wray, C., Friederich, M. W., du Sart, D., Pantaleo, S., Smet, J., Kucera, C., ... Van Hove, J. L. K. (2013). A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms. Mitochondrion, 13(6), 656-661. https://doi.org/10.1016/j.mito.2013.09.004