在前叶退行症中对TMEM106B的大脑体积和认知的基因特异性影响
Marijne Vandebergh1,2, Eliana Marisa Ramos3, Nick Corriveau-Lecavalier4,5
1VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
medRxiv : the preprint server for health sciences
|April 18, 2024
概括
TMEM106B基因变体rs1990622影响GRN和C9orf72突变的个体的大脑结构和认知能力,可能会影响前性痴呆症 (FTD) 的疾病进展. 这表明TMEM106B是FTD病理学的关键修饰剂.
科学领域:
- 神经遗传学 神经遗传学
- 神经退行性疾病 神经退行性疾病
- 人类遗传学 人类遗传学
背景情况:
- TMEM106B是TDP-43病理 (FTLD-TDP) 的前性痴呆症的拟议疾病风险修饰剂,特别是在GRN突变载体中.
- 已经探索了TMEM106B在健康衰老和其他神经退行性疾病中的作用.
- 这项研究调查了TMEM106B对遗传前性痴呆 (FTD) 群体和零星FTD的灰质体积和认知的影响.
结论:
- TMEM106B与GRN和C9orf72突变载体的灰质体积和认知有关,支持其作为TDP-43病理修饰者的作用.
- 在前症状携带者中观察到的关联表明TMEM106B会影响早期的病理生理变化.
- 这些发现凸显了TMEM106B在调节FTD风险和进展方面的重要性.
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