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Estudo imuno-histoquímico da distrofina em músculo de afetados por distrofias musculares progressivas (A Dystrophin Immunohistochemistry Study in. Muscle of Patients with Muscular Dystrophy)

Mariz Vainzof^I; Rita C.M. Pavanello^I; Ivo Pavanello Filhos^I; Maria Rita Passos-Bueno^I; Debora Rapaport^I; Chu T. Hsi^I; José A. Levy^II; Mary Carvalho^II; Paulo N. Salum^II; Mayana Zatz^I

^IDepartamento de Biologia, Instituto de Biociências, Universidade de São Paulo, Caixa Postal 11461, 05499 São Paulo, SP, Brasil. Send correspondence to M.V.
^IICentro de Investigações em Neurologia, Faculdade de Medicina, Universidade de São Paulo, 05499 São Paulo, SP, Brasil

ABSTRACT

A deficiency or abnormality of the protein dystrophin (located at the surface membrane of muscle fibers) was recently shown to be the cause of Duchenne (DMD) and Becker (BMD) muscular dystrophies.
Immunohistochemistry was used to study the dystrophin pattern in frozen sections obtained from muscle biopsies of 34 patients affected with different types of muscular dystrophies, 15 females belonging to families with DMD (11 obligate carriers and four of their daughters), three BMD obligate carriers and four normal controls. In normal muscle, a strong positive reaction was observed, in a continuous layer at the sarcolemma of the fibers. In 20 DMD patients, no reaction was seen in the majority of the fibers, although in most of the cases, a partial staining was seen in a portion of them (4 to 30%). In eight among ten patients with BMD, an apparently normal immunostain was seen, while in the remaining two the reaction seemed weaker. In four patients with limb-girdle muscular dystrophy, despite the typical histopathological abnormalities, a strong positive reaction was seen in all muscle fibers.

Keywords: Dystrophin immunohistochemistry; Muscular dystrophy.

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