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 three patients with mutations of the alpha-sarcoglycan gene and a patient with a mutation of the gamma-sarcoglycan gene. Although each of the four sarcoglycans were decreased on the muscle membranes of all the patients, different expression patterns for each were seen among the patients. In patients 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 mutation of the gamma-sarcoglycan gene showed marked reduction of gamma-sarcoglycan as compared to partially preserved alpha- and beta-sarcoglycans, and well-preserved delta-sarcoglycan. These results suggest that each sarcoglycan component in sarcoglycanopathy does not decrease in the same manner, and that mutations of the sarcoglycan gene can be predicted, at least in part, by means of sensitive immunohistochemistry for each sarcoglycan.
Higuchi
I
I
Third Department of Internal Medicine, Faculty of Medicine, Kagoshima University, Sakuragaoka, Japan.
Kawai
H
H
Umaki
Y
Y
Kawajiri
M
M
Adachi
K
K
Fukunaga
H
H
Nakagawa
M
M
Arimura
K
K
Osame
M
M
D002648:Child; D002675:Child, Preschool; D003598:Cytoskeletal Proteins / Q000172:deficiency* / Q000235:genetics*; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008562:Membrane Glycoproteins / Q000172:deficiency* / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology; D049031:Sarcoglycans
D003598:Cytoskeletal Proteins; D008562:Membrane Glycoproteins; D049031:Sarcoglycans