TY - JOUR
T1 - Immunocytochemistry of muscle cytoskeletal proteins in acid maltase deficiency
AU - Vita, G.
AU - Migliorato, A.
AU - Toscano, A.
AU - Bordoni, A.
AU - Bresolin, N.
AU - Fiumara, A.
AU - Messina, C.
PY - 1994
Y1 - 1994
N2 - Immunocytochemistry of dystrophin, spectrin, vinculin (sarcolemma- specific proteins), and desmin (an intermediate filament protein) were investigated in 5 patients with acid maltase deficiency (AMD). One patient had infant onset, 2 had childhood onset, and 2 had adult onset. All had a vacuolar myopathy with autophagic vacuoles containing glycogen and cytoplasmic degradation products. Dystrophin, spectrin, and vinculin were localized at the sarcolemma as in normal muscle fibers. Within the cytoplasm of many fibers, immunoreactivity for the three proteins was seen as single or multiple spots or as circular structures, which most likely corresponded to the limiting membrane of vacuoles. Desmin was overexpressed at the periphery of some vacuoles. It is plausible that, before exocytosis occurs, sarcolemma- specific proteins appear within the vacuole membrane. Vacuole immunolabeling frequently occurred in the patients with childhood and adult onset AMD, but very rarely occurred in the case with infant onset. We hypothesize that a reduced exocytosis rate might explain the infrequent vacuole immunolabeling and the early onset of the infant form of the disease.
AB - Immunocytochemistry of dystrophin, spectrin, vinculin (sarcolemma- specific proteins), and desmin (an intermediate filament protein) were investigated in 5 patients with acid maltase deficiency (AMD). One patient had infant onset, 2 had childhood onset, and 2 had adult onset. All had a vacuolar myopathy with autophagic vacuoles containing glycogen and cytoplasmic degradation products. Dystrophin, spectrin, and vinculin were localized at the sarcolemma as in normal muscle fibers. Within the cytoplasm of many fibers, immunoreactivity for the three proteins was seen as single or multiple spots or as circular structures, which most likely corresponded to the limiting membrane of vacuoles. Desmin was overexpressed at the periphery of some vacuoles. It is plausible that, before exocytosis occurs, sarcolemma- specific proteins appear within the vacuole membrane. Vacuole immunolabeling frequently occurred in the patients with childhood and adult onset AMD, but very rarely occurred in the case with infant onset. We hypothesize that a reduced exocytosis rate might explain the infrequent vacuole immunolabeling and the early onset of the infant form of the disease.
KW - acid maltase deficiency
KW - autophagic vacuoles
KW - cytoskeletal proteins
KW - exocytosis
KW - immunocytochemistry
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U2 - 10.1002/mus.880170614
DO - 10.1002/mus.880170614
M3 - Article
C2 - 8196708
AN - SCOPUS:0028245427
VL - 17
SP - 655
EP - 661
JO - Muscle and Nerve
JF - Muscle and Nerve
SN - 0148-639X
IS - 6
ER -