Immunodetection analysis of muscular dystrophies in Mexico.
Muscle Nerve
; 45(3): 338-45, 2012 Mar.
Article
en En
| MEDLINE
| ID: mdl-22334167
ABSTRACT
INTRODUCTION:
The muscular dystrophies (MDs) result from perturbations in the myofibers. These alterations are induced in part by mechanical stress due to membrane cell fragility, disturbances in mechanotransduction pathways, muscle cell physiology, and metabolism.METHODS:
We analyzed 290 biopsies of patients with a clinical diagnosis of muscular dystrophy. Using immunofluorescence staining, we searched for primary and secondary deficiencies of 12 different proteins, including membrane, costamere, cytoskeletal, and nuclear proteins. In addition, we analyzed calpain-3 by immunoblot.RESULTS:
We identified 212 patients with varying degrees of protein deficiencies, including dystrophin, sarcoglycans, dysferlin, caveolin-3, calpain-3, emerin, and merosin. Moreover, 78 biopsies showed normal expression of all investigated muscle proteins. The frequency rates of protein deficiencies were as follows 52.36% dystrophinopathies; 18.40% dysferlinopathies; 14.15% sarcoglycanopathies; 11.32% calpainopathies; 1.89% merosinopathies; 1.42% caveolinopathies; and 0.47% emerinopathies. Deficiencies in lamin A/C and telethonin were not detected.CONCLUSION:
We have described the frequency of common muscular dystrophies in Mexico.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Proteínas de la Membrana
/
Proteínas Musculares
/
Distrofias Musculares
Tipo de estudio:
Prognostic_studies
Límite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Humans
/
Infant
/
Middle aged
País/Región como asunto:
Mexico
Idioma:
En
Revista:
Muscle Nerve
Año:
2012
Tipo del documento:
Article