INFANTILE ACID MALTASE DEFICIENCY .3. ULTRASTRUCTURE OF METACHROMATIC MATERIAL AND GLYCOGEN IN MUSCLE-FIBERS
INFANTILE ACID MALTASE DEFICIENCY .3. ULTRASTRUCTURE OF METACHROMATIC MATERIAL AND GLYCOGEN IN MUSCLE-FIBERS
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DOI：
10.1007/bf02889851
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发表时间：
1984-01-01
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影响因子：
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通讯作者：
GRIFFIN, JL
中科院分区：
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作者：
GRIFFIN, JL
在婴儿型酸性麦芽糖酶缺乏症（AMD）中，大量糖原积聚在肌纤维中，然后逐渐被消化。在一些糖原纤维中发现的异染物质，以前没有用EM研究过，有2种不同的精细结构外观。有些在形状和大小上与糖原β颗粒相似，但染色更强烈，有些颗粒更大，形状不规则，染色亲和力更高。由于Hers发现了酸性麦芽糖酶缺乏症，其他人提出需要1种以上的遗传缺陷或额外的溶酶体外因素来解释大量糖原积累和异染性。没有其他罕见遗传缺陷的直接证据。提出了2个简单的建议与主要的不足之处。第一种是部分消化的糖原被浓缩，这集中了结合染料的位点，产生异染性和其他与正常糖原的差异。第二，肌纤维中糖原的大量积累除了先前认识到的溶酶体蓄积和溶酶体破裂外，还涉及兴奋-收缩联系中断引起的肌浆磷酸化酶失活。这两个建议在生理学上是合理的，并且可能是可检验的，并且不会引起2个或更多罕见基因突变的巧合。
In infantile acid maltase deficiency (AMD), masses of glycogen accumulate in muscle fibers and are then gradually digested. The metachromatic material found in some glycogen-filled fibers, not previously studied with the EM, has 2 different fine structural appearances. Some is similar in shape and size to glycogen beta granules, but is more intensely stained, and some is in larger granules, irregular in shape, and has even higher stain affinity. Since acid maltase deficiency was identified by Hers, others proposed that more than 1 genetic defect or additional extralysosomal factors are required to account for massive glycogen accumulation and metachromasia. There is no direct evidence of additional rare genetic defects. Presented are 2 simple proposals consistent with the primary deficiency. The 1st is that some partly digested glycogen is condensed and that this concentrates the sites that bind dye, producing metachromasia and other differences from normal glycogen. The 2nd is that the massive accumulation of glycogen in muscle fibers involves, in addition to previously recognized lysosomal storage and lysosomal rupture, inactivation of sarcoplasmic phosphorylase caused by disruption of excitation-contraction linkages. These 2 proposals are physiologically plausible and potentially testable and do not invoke the coincidence of 2 or more rare genetic mutations.