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

Carter D. 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

Research output: Contribution to journalArticle

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
StatePublished - Nov 1 2013

Keywords

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

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology
  • Cell Biology

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    Wray, C. D., Friederich, M. W., du Sart, D., Pantaleo, S., Smet, J., Kucera, C., Fenton, L., Scharer, G., Van Coster, R., & 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