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

doi:10.1016/j.mito.2013.09.004

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

Pediatrics

Research output: Contribution to journal › Article › peer-review

17 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 language	English (US)
Pages (from-to)	656-661
Number of pages	6
Journal	Mitochondrion
Volume	13
Issue number	6
DOIs	https://doi.org/10.1016/j.mito.2013.09.004
State	Published - Nov 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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10.1016/j.mito.2013.09.004

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

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.",

keywords = "Coenzyme Q binding, Electron transport chain complex 1, Infantile spasms, Leigh disease, ND1",

author = "Wray, {Carter D.} and Friederich, {Marisa W.} and {du Sart}, Desiree and Sarah Pantaleo and Jo{\'e}l Smet and Cathlin Kucera and Laura Fenton and Gunter Scharer and {Van Coster}, Rudy and {Van Hove}, {Johan L.K.}",

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AU - Wray, Carter D.

AU - Friederich, Marisa W.

AU - du Sart, Desiree

AU - Pantaleo, Sarah

AU - Smet, Joél

AU - Kucera, Cathlin

AU - Fenton, Laura

AU - Scharer, Gunter

AU - Van Coster, Rudy

AU - Van Hove, Johan L.K.

PY - 2013/11

Y1 - 2013/11

N2 - 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.

AB - 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.

KW - Coenzyme Q binding

KW - Electron transport chain complex 1

KW - Infantile spasms

KW - Leigh disease

KW - ND1

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

Abstract

Keywords

ASJC Scopus subject areas

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