DIFFERENT MANNERS OF SARCOGLYCAN EXPRESSION IN GENETICALLY PROVEN ALPHA-SARCOGLYCAN DEFICIENCY AND GAMMA-SARCOGLYCAN DEFICIENCY

We investigated the expression of alpha-sarcoglycan, beta-sarcoglycan, gamma-sarcoglycan, and delta-sarcoglycan immunohistochemically in thr ee patients with mutations of the alpha-sarcoglycan gene and a patient with a mutation of the gamma-sarcoglycan gene. Although each of the f our sarcoglycans were decreased on the muscle membranes of all the pat ients, different expression patterns for each were seen among the pati ents. Inpatients with mutations of the alpha-sarcoglycan gene, beta-, gamma- and delta-sarcoglycans were relatively preserved as compared to greatly reduced alpha-sarcoglycan. However, the patient with a mutati on of the gamma-sarcoglycan gene showed marked reduction of gamma-sarc oglycan as compared to partially preserved alpha- and beta-sarcoglycan s, and well-preserved delta-sarcoglycan. These results suggest that ea ch sarcoglycan component in sarcoglycanopathy does not decrease in the same manner, and that mutations of the sarcoglycan gene can be predic ted, at least in part, by means of sensitive immunohistochemistry for each sarcoglycan.