墨西哥肌肉萎缩症的免疫检测分析。

Immunodetection analysis of muscular dystrophies in Mexico.

机构信息

Departamento de Morfología Celular y Molecular, Instituto Nacional de Rehabilitación, Secretaría de Salud, Mexico City, México.

出版信息

Muscle Nerve. 2012 Mar;45(3):338-45. doi: 10.1002/mus.22314.

DOI:10.1002/mus.22314

PMID: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.

摘要

简介

肌肉萎缩症（MD）是由于肌纤维的异常引起的。这些改变部分是由细胞膜的脆弱性引起的机械应力、机械转导途径、肌肉细胞生理学和代谢的紊乱所诱导的。

方法

我们分析了 290 例临床诊断为肌肉萎缩症患者的活检标本。我们使用免疫荧光染色，搜索了 12 种不同蛋白的原发性和继发性缺乏，包括膜蛋白、细胞骨架蛋白和核蛋白。此外，我们还通过免疫印迹分析了钙蛋白酶-3。

结果

我们鉴定了 212 例具有不同程度蛋白缺乏的患者，包括 dystrophin、sarcoglycans、dysferlin、caveolin-3、calpain-3、emerin 和 merosin。此外，78 例活检标本显示所有研究的肌肉蛋白表达正常。蛋白缺乏的频率如下：52.36% dystrophinopathies；18.40% dysferlinopathies；14.15% sarcoglycanopathies；11.32% calpainopathies；1.89% merosinopathies；1.42% caveolinopathies；和 0.47% emerinopathies。未检测到 lamin A/C 和 telethonin 的缺乏。