A novel mitochondrial transfer RNA(Asn) mutation causing multiorgan failure.
Arch Neurol
; 63(8): 1194-8, 2006 Aug.
Article
en En
| MEDLINE
| ID: mdl-16908752
BACKGROUND: Mitochondrial cytopathies are a heterogeneous group of disorders with a broad spectrum of clinical symptoms. OBJECTIVE: To characterize a novel mutation in the transfer RNA(Asn) (m.5728A>G) identified in a 13-year-old boy with multiorgan failure. DESIGN: Biochemical and immunocytochemical studies were performed in combination with transmitochondrial cybrid analysis. SETTING: A university hospital. Molecular and biochemical analyses were performed in collaboration between 2 other university hospitals. PATIENT: Thirteen-year-old boy with multiorgan failure. RESULTS: In the patient's muscle tissue and cultured skin fibroblasts, a combined deficiency of complexes I and IV was found, using spectrophotometric analysis and activity staining in the gel following blue native polyacrylamide gel electrophoresis. An identical biochemical profile was seen in transmitochondrial cybrids carrying more than 55% mutant mitochondrial DNA. CONCLUSION: These data suggest that the m.5728A>G transition is a pathogenic mutation and is the cause of the respiratory chain dysfunction in the propositus.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Asparagina
/
ADN Mitocondrial
/
ARN de Transferencia de Asparagina
/
Mutación Puntual
/
Insuficiencia Multiorgánica
Tipo de estudio:
Prognostic_studies
Límite:
Adolescent
/
Humans
/
Male
Idioma:
En
Revista:
Arch Neurol
Año:
2006
Tipo del documento:
Article
País de afiliación:
Bélgica
Pais de publicación:
Estados Unidos