与三联蛋白敲除综合征相关的先天性肌病。
Congenital myopathy associated with the triadin knockout syndrome.
作者信息
Engel Andrew G, Redhage Keeley R, Tester David J, Ackerman Michael J, Selcen Duygu
机构信息
From the Departments of Neurology and Muscle Research Laboratory (A.G.E., D.S.), Cardiovascular Diseases/Division of Heart Rhythm Services (A.G.E., D.S.), Pediatric and Adolescent Medicine/Division of Pediatric Cardiology (K.R.R., D.J.T., M.J.A.), and Molecular Pharmacology & Experimental Therapeutics/Windland Smith Rice Sudden Death Genomics Laboratory (K.R.R., D.J.T., M.J.A.), Mayo College of Medicine, Rochester, MN.
出版信息
Neurology. 2017 Mar 21;88(12):1153-1156. doi: 10.1212/WNL.0000000000003745. Epub 2017 Feb 15.
OBJECTIVE
Triadin is a component of the calcium release complex of cardiac and skeletal muscle. Our objective was to analyze the skeletal muscle phenotype of the triadin knockout syndrome.
METHODS
We performed clinical evaluation, analyzed morphologic features by light and electron microscopy, and immunolocalized triadin in skeletal muscle.
RESULTS
A 6-year-old boy with lifelong muscle weakness had a triadin knockout syndrome caused by compound heterozygous null mutations in triadin. Light microscopy of a deltoid muscle specimen shows multiple small abnormal spaces in all muscle fibers. Triadin immunoreactivity is absent from type 1 fibers and barely detectable in type 2 fibers. Electron microscopy reveals focally distributed dilation and degeneration of the lateral cisterns of the sarcoplasmic reticulum and loss of the triadin anchors from the preserved lateral cisterns.
CONCLUSIONS
Absence of triadin in humans can result in a congenital myopathy associated with profound pathologic alterations in components of the sarcoplasmic reticulum. Why only some triadin-deficient patients develop a skeletal muscle phenotype remains an unsolved question.
目的
三联蛋白是心肌和骨骼肌钙释放复合体的一个组成部分。我们的目的是分析三联蛋白基因敲除综合征的骨骼肌表型。
方法
我们进行了临床评估，通过光学显微镜和电子显微镜分析形态学特征，并在骨骼肌中对三联蛋白进行免疫定位。
结果
一名患有终身肌无力的6岁男孩患有三联蛋白基因敲除综合征，该综合征由三联蛋白的复合杂合无效突变引起。三角肌标本的光学显微镜检查显示所有肌纤维中存在多个小的异常间隙。I型纤维中不存在三联蛋白免疫反应性，II型纤维中几乎检测不到。电子显微镜显示肌浆网外侧池局灶性扩张和变性，以及保留的外侧池中三联蛋白锚的丢失。
结论
人类缺乏三联蛋白可导致先天性肌病，伴有肌浆网成分的严重病理改变。为什么只有一些三联蛋白缺乏的患者会出现骨骼肌表型仍是一个未解之谜。
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