Evaluation of Muscular Dystrophies at Protein Level Using Immunohistochemistry Technique

Muscular dystrophies are often multisystemic disorders with progressive muscle weakness and defects in muscles’ protein. There are nine subtypes of muscular dystrophies such as dystrophinopathies, sarcoglycanopathies and congenital muscular dystrophies. It is necessary to have definite diagnosis of muscular dystrophies by clinical and experimental tools such as CK activity assay, electromyography or ultrasonography, PCR and muscle biopsy in order to have the benefits of genetic counseling, prenatal diagnosis, and possible treatments and also to decrease the prevalence of the disease. So, for the first time in Iran and in order to diagnose and differentiate muscular dystrophies at protein levelو 72 patients underwent muscle biopsy followed by histopathology and immunohistichemisry assays. In conclusion, 44 patients were identified: 24 patients with dystrophinopathy including 6 duchenne muscular dystrophies and 18 becker muscular dystrophies, 14 patients with limb-girdle muscular dystrophy including 11 sarcoglycanopathies and 3 dysferlinopathies and 6 patients with merosin deficiency (congenital muscular dystrophy). Furthermore, tissue samples of 28 patients which are all positive for the available antibodies were stored for future studies.