SOMATIC EXPANSION OF THE (CAG)(N) REPEAT IN HUNTINGTON DISEASE BRAINS
SOMATIC EXPANSION OF THE (CAG)(N) REPEAT IN HUNTINGTON DISEASE BRAINS
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DOI：
10.1007/bf00225192
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发表时间：
1995-03-01
期刊：
影响因子：
5.3
通讯作者：
DENDUNNEN, JT
中科院分区：
文献类型：
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作者：
DEROOIJ, KE;GANS, PAMD;DENDUNNEN, JT
引起亨廷顿病（HD）的突变已被鉴定为亨廷顿基因5 '部分的多态性（CAG）（n）重复的扩展。HD的特定神经病理学，即尾状核和壳核中的选择性神经元损失，不能用该基因的广泛表达来解释。由于在强直性肌营养不良的受累组织中观察到体细胞扩张，我们研究了大脑不同区域中（CAG）（n）重复序列的长度。虽然我们在比较严重和轻度受累区域时没有发现明显的差异，但我们在比较受累脑样本与小脑或外周血样本时观察到重复序列长度略有增加。因此，尽管进一步的体细胞扩增似乎发生在大脑的受影响区域，但受影响区域和未受影响区域之间的差异太小，无法使该机制成为HD中差异性神经元变性原因的明显候选者。
The mutation causing Huntington disease (HD) has been identified as an expansion of a polymorphic (CAG)(n) repeat in the 5' part of the huntingtin gene. The specific neuropathology of HD, viz. selective neuronal loss in the caudate nucleus and putamen, cannot be explained by the widespread expression of the gene. Since somatic expansion is observed in affected tissue in myotonic dystrophy, we have studied the length of the (CAG)(n) repeat in various regions of the brain. Although we have not found clear differences when comparing severely and mildly affected regions, we have observed a minor increase in repeat length upon comparison of affected brain samples with cerebellum or peripheral blood. Hence, although further somatic amplification seems to occur in affected areas of the brain, the differences between affected and unaffected regions are too small to make this mechanism an obvious candidate for the cause of differential neuronal degeneration in HD.