Immunohistochemistry and Western blot for diagnosis of benign muscular dystrophy related with dystrophin / 中华神经科杂志

ABSTRACT

Objective To investigate the value of the immunohistochemistry and Western blot in the diagnosis of the benign muscular dystrophy with abnormal dystrophin expression.Methods The medical histories and clinical manifestations of 4 patients were collected.In addition to routine histological and histochemical studies,expression of dystrophin in muscle fibets was observed by immunohistochemical reaction(dys-N,dys-R and dys-C)and Western blot to anti-dystrophin antibody.Results Two patients had muscular weakness while another 2 patients had only muscular pain and elevated creatine kinase blood levels without muscular weakness.Histochemical stains showed atrophy,hypertrophy and fiber splitting in 2 patients,while only variation in fiber size was presented in anothor 2 patients.One patient had no reaction for dys-N,but had immunostains for dys-C and dys-R in the sarcolemma of muscle fibers.Western blot confirmed that the band of dys-C and dys-R was partly deficient,and the band of dys-N was absent compared with control.Three patients had no reaction for dys-R,but had immunostains for dys-C and dys-N.Compared with control,Western blot confirmed that the band of dys-R was absent,and the band of dys-C and dys-N were truncated.Conclusion The immunohistochemistry is stained with three anti-dystrophin antibodies to avoid diagnostic errors.Western blot is essential to further determine the type of dystrophin protein.