Muscle membrane-skeleton protein changes and histopathological characterization of muscle-eye-brain disease.
Neuromuscul Disord
; 10(1): 16-23, 2000 Jan.
Article
en En
| MEDLINE
| ID: mdl-10677859
Muscle-eye-brain disease belongs to congenital muscular dystrophies with central nervous system abnormalities. The etiology of MEB is still unknown, but abnormal immunoreactivity for laminin-2 has been reported. To evaluate disease progression in muscle tissue, 32 biopsy specimens from 17 muscle-eye-brain patients were analysed. The samples of four patients were studied by immunohistochemical techniques and by quantitative Western blotting. The samples showed a great variation in the muscle pathology. Regenerative fibers and mild fiber size variation were present in over 60%. At infancy, necrotic and regenerative fibers were common, while fat infiltration was the most prominent finding in the age group over five years. In quantitative studies, the amount of laminin alpha 2 chain was clearly reduced to 10-20% of normal. In contrast, laminin beta 2 chain was overexpressed in the Western blotting studies. These findings may reflect a yet unidentified primary disturbance in the basement membrane composition and function.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Proteínas del Citoesqueleto
/
Proteínas de la Membrana
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Músculos
/
Distrofias Musculares
Límite:
Adolescent
/
Adult
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Aged
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
Neuromuscul Disord
Asunto de la revista:
NEUROLOGIA
Año:
2000
Tipo del documento:
Article
País de afiliación:
Finlandia
Pais de publicación:
Reino Unido