Department of Neurology, National Hospital Organization Hyogo-Chuo Hospital, 1314 Ohara, Sanda, 669-1592, Japan.
Muscle Nerve. 2013 Jul;48(1):105-8. doi: 10.1002/mus.23717. Epub 2013 Apr 29.
We statistically analyzed somatic instability of the CTG expansion in the central nervous system and visceral organs in 7 patients with myotonic dystrophy type 1 and also report intracerebellar instability in 2 patients.
CTG repeat expansion was estimated in the samples from autopsied brains and visceral organs by Southern blot analysis. Pathological study was performed. Samples were taken from several sites in the cerebellum to examine intracerebellar instability.
The CTG repeat expansion was shortest in the cerebellar cortex among all tissues examined. With regard to the intracerebellar difference, the shortest expansion was seen in the cortices of the hemisphere and vermis, whereas it was moderate in the dentate nucleus and longest in the white matter of the hemisphere and middle cerebellar peduncle.
The shortest expansion might be attributable to packed granule cells in the cerebellar cortex. Further analysis of cell-specific methylation states might elucidate the enigma of somatic instability.
我们对 7 例 1 型肌强直性营养不良患者中枢神经系统和内脏器官中的 CTG 扩张的体突变进行了统计学分析，还报告了 2 例患者的小脑内不稳定。
通过 Southern 印迹分析对尸检脑和内脏器官样本中的 CTG 重复扩张进行了估计。进行了病理学研究。从小脑的多个部位取样本以检查小脑内不稳定。
在所有检查的组织中，小脑皮质中的 CTG 重复扩张最短。就小脑内差异而言，最短的扩张见于大脑半球和小脑蚓部的皮质，而在齿状核中为中度，在大脑半球和小脑中脑脚的白质中最长。
最短的扩张可能归因于小脑皮质中颗粒细胞的堆积。进一步分析细胞特异性甲基化状态可能阐明体突变的谜团。
