Lee Youngseok, Paik Donggi, Bang Sunhoe, Kang Jongkyun, Chun Bumkoo, Lee Seungbok, Bae Eunkyung, Chung Jongkyung, Kim Jaeseob
Department of Biological Sciences, Korea Advanced Institute of Science & Technology, 373-1 Guseong-Dong, Yuseong-Gu, Daejeon 305-701, Republic of Korea.
Neurobiol Aging. 2008 Jan;29(1):84-94. doi: 10.1016/j.neurobiolaging.2006.09.004. Epub 2006 Oct 9.
Hereditary spastic paraplegias (HSPs) are human genetic disorders causing increased stiffness and overactive muscle reflexes in the lower extremities. atlastin (atl) is one of the major genes in which mutations result in HSP. We generated a Drosophila model of HSP that has a null mutation in atl. As they aged, atl null flies were paralyzed by mechanical shock such as bumping or vortexing. Furthermore, the flies showed age-dependent degeneration of dopaminergic neurons. These phenotypes were rescued by targeted expression of atl in dopaminergic neurons or feeding L-DOPA or SK&F 38393, an agonist of dopamine receptor. Our data raised the possibility that one of the causes of HSP disease symptoms in human patients with alt mutations is malfunction or degeneration of dopaminergic neurons.
遗传性痉挛性截瘫(HSPs)是一种人类遗传疾病,会导致下肢僵硬加剧和肌肉反射亢进。atlastin(atl)是其中一个主要基因,其突变会导致HSP。我们构建了一个atl基因发生无效突变的HSP果蝇模型。随着年龄增长,atl基因缺失的果蝇会因碰撞或涡旋等机械冲击而瘫痪。此外,这些果蝇还表现出多巴胺能神经元的年龄依赖性退化。通过在多巴胺能神经元中靶向表达atl,或喂食L-多巴或多巴胺受体激动剂SK&F 38393,这些表型得到了挽救。我们的数据提出了一种可能性,即携带alt突变的人类患者出现HSP疾病症状的原因之一是多巴胺能神经元功能异常或退化。