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神经元内核包容的形成是HD突变转基因小鼠的神经功能障碍的基础

S W Davies1, M Turmaine, B A Cozens

  • 1Department of Anatomy and Developmental Biology, University College London, United Kingdom.

Cell
|August 8, 1997
PubMed
概括

亨廷顿病 (HD) 是一种由基因突变引起的神经退行性疾病. 具有这些突变的转基因小鼠在出现神经症状之前就会发展出神经元内核包容,反映出人类患者的病理.

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Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...