人类睫状神经营养因子（CNTF）缺乏与肌萎缩侧索硬化症（ALS）无因果关系。

[Deficiency of human ciliary neurotropic factor (CNTF) is not causally related to amyotrophic lateral sclerosis (ALS)].

作者信息

Takahashi R

机构信息

Department of Neurology, Tokyo Metropolitan Institute for Neuroscience.

出版信息

Rinsho Shinkeigaku. 1995 Dec;35(12):1543-5.

PMID:8752458

Abstract

Ciliary neurotrophic factor (CNTF) promotes the survival of motor neurons in vitro and in vivo. A recent report showed that disruption of the CNTF gene in mice caused motor neuron degeneration. We have found a null mutation in the human CNTF gene. The mutated allele shows a G to A transition producing a new splice acceptor site and the resulting mRNA species codes for an aberrant protein. Analysis of tissue samples demonstrated that the mutated allele expressed only the mutated mRNA species. In 391 Japanese people tested, 61.9% were normal homozygotes, 35.8% heterozygotes and 2.3% mutant homozygotes. The distribution of the three genotypes is similar in healthy and neurological disease subjects including ALS patients. Our findings indicate that CNTF deficiency is not causally related to ALS.

摘要

睫状神经营养因子（CNTF）在体外和体内均可促进运动神经元的存活。最近的一份报告显示，小鼠体内CNTF基因的破坏会导致运动神经元变性。我们在人类CNTF基因中发现了一个无效突变。突变等位基因显示从G到A的转变，产生了一个新的剪接受体位点，所产生的mRNA编码一种异常蛋白质。对组织样本的分析表明，突变等位基因仅表达突变的mRNA。在接受检测的391名日本人中，61.9%为正常纯合子，35.8%为杂合子，2.3%为突变纯合子。在包括肌萎缩侧索硬化症（ALS）患者在内的健康人和神经疾病患者中，这三种基因型的分布相似。我们的研究结果表明，CNTF缺乏与ALS没有因果关系。