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Updated: Jun 14, 2026

Immunohistochemical Visualization of Hippocampal Neuron Activity After Spatial Learning in a Mouse Model of Neurodevelopmental Disorders
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突变的亨廷丁通过CHCHD2-介导的神经代谢失败损害了人类大脑器官中的神经发育

Pawel Lisowski1,2,3,4, Selene Lickfett5,6,7, Agnieszka Rybak-Wolf2,8

  • 1Quantitative Stem Cell Biology, Berlin Institute for Medical Systems Biology (BIMSB), Berlin, Germany.

Nature communications
|August 22, 2024
PubMed
概括

突变的亨廷丁蛋白 (mHTT) 通过改变CHCHD2水平来破坏人类早期大脑发育,影响亨廷顿病 (HD) 中的线粒体功能. 恢复CHCHD2可能为HD提供早期治疗点.

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Huntington Disease l: Introduction01:21

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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,...