Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10882974 | Mitochondrion | 2013 | 6 Pages |
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.
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Authors
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,