Fujita T, Nonaka I, Sugita H
National Institute of Neuroscience, NCNP, Kodaira, Tokyo, Japan.
Brain Dev. 1991 Jul;13(4):247-55. doi: 10.1016/s0387-7604(12)80058-1.
A morphological study was carried out on the skeletal muscle of a mutant Japanese quail with acid maltase deficiency (AMD). The affected quails began to experience difficulty in lifting their wings about 6 weeks after hatching. Four weeks after hatching, before symptoms appeared, alpha-1, 4-glucosidase activity in skeletal muscle was decreased to less than 10% of the control level, and muscle fibers possessed many vacuoles containing periodic acid Schiff (PAS) positive material which was digested by diastase, and showed high acid phosphatase activity. Although both red and white muscles were involved, the pectoralis superficialis (PS, white) muscle was preferentially affected, showing intracytoplasmic vacuoles, variation in fiber size and fatty tissue replacement relatively early in the disease. The quails' disease closely resembled human late onset AMD in the slow clinical course, the presence of residual acid alpha-glucosidase activity and the muscle pathology. This mutant quail seems a useful model for elucidation of the muscle degeneration in human AMD (glycogen storage disease type 2).
对一只患有酸性麦芽糖酶缺乏症（AMD）的突变日本鹌鹑的骨骼肌进行了形态学研究。受影响的鹌鹑在孵化后约6周开始出现举翅困难。孵化后4周，在症状出现之前，骨骼肌中的α-1,4-葡萄糖苷酶活性降至对照水平的10%以下，肌纤维有许多含有过碘酸希夫（PAS）阳性物质的空泡，该物质可被淀粉酶消化，并显示出高酸性磷酸酶活性。虽然红肌和白肌都受累，但胸浅肌（PS，白肌）优先受到影响，在疾病早期就出现胞浆内空泡、纤维大小变化和脂肪组织替代。鹌鹑的疾病在缓慢的临床过程、残余酸性α-葡萄糖苷酶活性的存在以及肌肉病理学方面与人类晚发性AMD非常相似。这种突变鹌鹑似乎是阐明人类AMD（糖原贮积病2型）肌肉变性的有用模型。
