期刊
MITOCHONDRION
卷 9, 期 5, 页码 346-352出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.mito.2009.06.002
关键词
Neonatal disease; Respiratory chain defect; Cytochrome b; Mitochondrial DNA; Homoplasmic mutation
资金
- Ministere de la Sante
- Gessler Foundation
Mutations within the mitochondrially encoded cytochrome b (MTCYB) gene are heteroplasmic and lead to severe exercise intolerance. We describe an unusual clinical presentation secondary to a novel homoplasmic mutation within MTCYB. The m.15635T > C transition (S297P) was carried by a newborn who presented with a polyvisceral failure. This mutation was responsible for a complex III deficiency. It was homoplasmic in all tissues tested and was undetectable in patient's mother. Functional analyses, including studies on patient's cybrid cell lines, demonstrate the pathogenicity of this variant. Our data show that mutations within MTCYB can be responsible for severe phenotype at birth. (C) 2009 Elsevier B. V. and Mitochondria Research Society. All rights reserved.
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