SOMATIC EXPANSION OF THE (CAG)(N) REPEAT IN HUNTINGTON DISEASE BRAINS

被引:52
作者
DEROOIJ, KE
GANS, PAMD
ROOS, RAC
VANOMMEN, GJB
DENDUNNEN, JT
机构
[1] LEIDEN UNIV,SYLVIUS LAB,MGC,DEPT HUMAN GENET,2333 AL LEIDEN,NETHERLANDS
[2] LEIDEN UNIV,DEPT NEUROL,LEIDEN,NETHERLANDS
[3] CLIN GENET CTR LEIDEN,LEIDEN,NETHERLANDS
关键词
D O I
10.1007/BF00225192
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
收藏
页码:270 / 274
页数:5
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