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分析正常的C9orf72重复长度作为可能的疾病修饰因子在肌缩性侧面硬化症

Silvia Peverelli¹, Alberto Brusati², Valeria Casiraghi³

¹Department of Neurology-Laboratory of Neuroscience, IRCCS, Istituto Auxologico Italiano, Milan, Italy.

Amyotrophic lateral sclerosis & frontotemporal degeneration

|December 15, 2023

概括

在没有C9orf72突变的患者中,正常的C9orf72六核酸重复 (HR) 长度不会改变肌缩侧面硬化症 (ALS). 较长的正常HR等位基因会增加C9orf72基因表达,但不会影响疾病的进展.

科学领域:

遗传学遗传学是一个
神经科学是一个神经科学.
分子生物学分子生物学

背景情况:

C9orf72 六核酸重复 (HR) 扩张是肌缩侧面硬化症 (ALS) 的主要遗传驱动因素.
正常的C9orf72HR长度是多态的,在一般人群中,异位基因重复次数超过8个是罕见的.

研究的目的:

为了确定正常的C9orf72 HR长度是否会影响C9orf72基因表达.
研究正常C9orf72HR长度作为ALS患者缺乏C9orf72突变 (ALS-C9Neg) 的疾病修饰者的作用.

主要方法:

在325名ALS-C9Neg患者和303名健康对照中对C9orf72 HR等位基因的基因定型.
基于HR等位基因型的血液样本中C9orf72和V3mRNA水平的分析.
在ALS-C9Neg患者中HR基因型和临床参数之间的相关性分析.

主要成果:

在ALS-C9Neg患者和对照人群中,HR等位基分布是可比的.
与两个短等位基 (S/S) 患者相比,具有两个长等位基 (L/L;≥8次重复) 的ALS-C9Neg患者的总C9orf72和V3mRNA水平增加.
在C9orf72 HR等位基因型 (L/L,S/L,S/S) 和临床疾病参数之间没有发现相关性.

结论:

正常的C9orf72 HR长度以长度依赖的方式增加了C9orf72基因表达.
尽管对基因表达有影响,但正常的C9orf72 HR长度似乎并不能在ALS-C9Neg.中起到疾病修饰作用.

关键词:

C9orf7272 是一个很好的方法.骨髓缩侧面硬化症 (ALS) 是一种疾病修饰剂是一种疾病修饰剂.基因表达的基因表达方式

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