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OPTN p.(Asn51Thr的鉴定:一种新型致病变异在初级开角青光眼中

Yukihiro Shiga^1,2,3, Kazuki Hashimoto¹, Kosuke Fujita^1,4

¹Department of Ophthalmology, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.

Genetics in medicine open

|December 13, 2024

概括

这项研究确定了东亚人群中与原发性开角玻璃眼 (POAG) 相关的OPTN基因中可能存在的新型致病变异. 这些发现提高了对罕见的POAG遗传原因的理解.

科学领域:

眼科医生眼科眼科
遗传学遗传学是一个
分子生物学分子生物学

背景情况:

主要开角青光眼 (POAG) 是不可逆转失明的主要原因.
已知TBK1,MYOC和OPTN基因中的致病变体是POAG的贡献者.
在POAG遗传研究中,东亚人群的代表性仍然不足.

研究的目的:

在东亚队列中调查TBK1,MYOC和OPTN基因的致病变体.
为了表征与初级开角青光眼相关的新型遗传变异.
阐明已识别的变异对蛋白质功能的功能影响.

主要方法:

在174名日本POAG患者中对TBK1,MYOC和OPTN变异进行全面查.
对8380个特定种群的基因组测序数据进行分析,用于变异验证.
进行了分离分析和in silico/in vitro功能性蛋白质测定.

主要成果:

确定了四种新型变异:两个在MYOC (p.(Cys5Trp),p.(Thr293Met)) 和两个在OPTN (p.(Asn51Thr),p.(Gln142His)) 中.
OPTN p. ((Asn51Thr) 变种,与已知的POAG变种相邻,在受影响的家族中与疾病分离.
功能性测试表明OPTN p. ((Asn51Thr) 增加了蛋白质的不溶性,并改变了复杂的相互作用.

结论:

这项研究提供了对罕见的POAG变体的遗传见解.
OPTN p. ((Asn51Thr) 被确定为POAG.的新型可能致病变体.
这些发现有助于更好地了解东亚人口中青光眼遗传学.

关键词:

遗传学遗传学是一个眼光障碍眼光障碍眼光障碍眼光障碍肌素 (MYOC) 是一种选择性尿素 (OPTN) 是一种坦克结合激酶1 (TBK1) 是一种结合激酶.

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