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确定LRRC46作为高近视的新型候选基因

Lingxi Jiang¹, Chao Dai¹, Yao Wei¹

¹Sichuan Provincial Key Laboratory for Human Disease Gene Study and the Center for Medical Genetics, Department of Laboratory Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, 610072, China.

Science China. Life sciences

|June 14, 2024

概括

含有46 (LRRC46) 的氨酸丰富重复是一种与高近视 (HM) 相关的新型基因. LRRC46中的突变会影响原蛋白的形成,导致角膜和硬膜的结构变化,促进近视的发展.

科学领域:

眼科医生眼科眼科
遗传学是一个遗传学.
生物化学生物化学

背景情况:

高近视 (HM) 是导致失明的主要原因,与角膜和膜的结构完整性有关.
MYP5链接区域 (17q21-22) 含有HM候选基因,包括LRRC46.
LRRC46在眼睛组织中表达,其在近视方面的作用尚未被探索.

研究的目的:

研究LRRC46作为高近视候选基因的作用.
为了确定LRRC46突变对眼组织的功能影响.
阐明LRRC46影响近视的分子机制.

主要方法:

对汉族中国血统的遗传分析发现了LRRC46 (c.C235T,p.Q79X) 突变.
在人类角膜上皮细胞 (HCE-T) 中分析LRRC46蛋白质表达.
对Lrrc46淘汰赛 (KO) 小鼠的表型分析,包括眼组织组织学和角膜和膜组织的RNA测序 (RNA-seq).

主要成果:

这种c.C235T突变减少了HCE-T细胞中的LRRC46蛋白表达.
Lrrc46^-/- (KO) 小鼠表现出近视现型,角膜和膜随年龄变薄.
在KO小鼠中,RNA-seq揭示了细胞外基质 (ECM) 和原合成途径的显著下调.
缺乏LRRC46会影响原蛋白的形成,特别是影响原蛋白VIIIα1 (Col8a1).

结论:

LRRC46是一种新的高近视候选基因.
通过原形成,LRRC46在维持角膜和膜生物机械结构方面发挥着至关重要的作用.
失调LRRC46通过改变眼组织完整性,有助于高近视的发展.

关键词:

第46章没有了LRRC46 生物力学生物力学第八种原蛋白蛋白高近视高近视的情况.

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