Mitochondrial DNA depletion in Leigh syndrome.
Pediatr Neurol
; 26(3): 239-42, 2002 Mar.
Article
en En
| MEDLINE
| ID: mdl-11955936
ABSTRACT
Leigh syndrome is a heterogenous neurologic disease characterized by seizures, developmental delay, muscle weakness, respiratory abnormalities, optic abnormalities, including atrophy and ophthalmoplegia, and progressive cranial nerve degeneration with early onset in infants and children. Diagnosis can be confirmed by characteristic pathologic findings of necrosis in the basal ganglia, thalamus, and brainstem. Severe dysfunction of mitochondrial energy metabolism is generally present and involved in the etiology of this degenerative central nervous system disease. At the molecular level, a number of point mutations have been located in mitochondrial DNA genes, including ATPase6 and tRNA(Lys) genes, and in nuclear genes encoding subunits of oxidative enzymes, such as pyruvate dehydrogenase. Biochemically these mutations are responsible for enzymatic defects in either respiratory complexes (I, IV, or V) or pyruvate dehydrogenase. We describe here the first case of Leigh syndrome with marked depletion of mitochondrial DNA levels in skeletal muscle and abnormal activities in skeletal muscle of mitochondrial respiratory complexes I, III, IV, and V.
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Base de datos:
MEDLINE
Asunto principal:
ADN Mitocondrial
/
Enfermedad de Leigh
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Pediatr Neurol
Asunto de la revista:
NEUROLOGIA
/
PEDIATRIA
Año:
2002
Tipo del documento:
Article
País de afiliación:
Estados Unidos