LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation.
Eur J Hum Genet
; 13(5): 623-7, 2005 May.
Article
en En
| MEDLINE
| ID: mdl-15657614
ABSTRACT
Pathogenic point mutations in the mitochondrial MTND1 gene have previously been described in association with two distinct clinical phenotypes -- Leber hereditary optic neuropathy (LHON) and mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Here we report the first heteroplasmic mitochondrial DNA (mtDNA) point mutation (3376G>A) in the MTND1 gene associated with an overlap syndrome comprising the clinical features of both LHON and MELAS. Muscle histochemistry revealed subtle mitochondrial abnormalities, while biochemical analysis showed an isolated complex I deficiency. Our findings serve to highlight the growing importance of mutations in mitochondrial complex I structural genes in MELAS and its associated overlap syndromes.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
ADN Mitocondrial
/
Síndrome MELAS
/
Atrofia Óptica Hereditaria de Leber
/
NADH Deshidrogenasa
Tipo de estudio:
Risk_factors_studies
Límite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Eur J Hum Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2005
Tipo del documento:
Article
País de afiliación:
Reino Unido