在阿尔茨海默氏病中,Wnt目标基因与皮质体积之间的关联
Liling Dong1, Bo Hou2, Caiyan Liu1
1Neurology Department, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Shuaifuyuan No. 1, Dongcheng District, Beijing, 100005, China.
Journal of molecular neuroscience : MN
|December 22, 2023
概括
Wnt目标基因中的遗传变异会影响阿尔茨海默病 (AD) 患者的大脑缩,对皮质体积产生不对称的影响. 这表明Wnt信号通路在AD相关的大脑变化中起作用.
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
- 分子生物学分子生物学
背景情况:
- 皮层缩是阿尔茨海默病 (AD) 病理生理学的关键生物标志物.
- 在AD中皮质缩的遗传基础尚未得到充分理解.
- Wnt信号通路涉及到各种细胞过程,包括发育和疾病.
研究的目的:
- 研究Wnt目标基因变异对散发性阿尔茨海默病患者皮质体积的影响.
- 探索Wnt信号通路在AD中观察到的皮质缩中的潜在作用.
主要方法:
- 招募82名零星AD患者,具有全面的临床数据.
- 分析包括历史调查,生物化学检查,认知评估,MRI形态测量和整个外体序列测序.
- 专注于32个Wnt目标基因中的84个常见变异,检查它们与皮质体积的关联.
主要成果:
- Wnt目标基因对皮质体积表现出不对称的影响,与左侧相比,对右侧部/部/部区域的影响更大.
- 额叶皮层显示了相反的缩模式.
- DACT1,TCF3和APC变异与皮层厚度变化最强烈相关;DACT1rs698025-GG基因型与右极和左侧中枢轨道前回形的特定体积差异相关.
结论:
- 在Wnt目标基因中常见的变异对阿尔茨海默病患者的皮质体积产生不对称的影响.
- 建议Wnt信号通路在AD皮质缩的发展中发挥重要作用.
- 这些发现突出了潜在的遗传点,以了解和可能干预与阿尔茨海默病相关的大脑变化.
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