Gene:人类中与年龄相关听力损失相关新候选基因鉴定

2020-03-31 AlexYang MedSci原创

年龄相关的听力损失(ARHL)是老年人中最常见的感觉障碍,在不小于65岁的成年人中影响的比例大约为三分之一,尽管有许多人受其影响,ARHL仍然是一个未满足临床需求的领域,并且到目前为止只检测了一部分A

年龄相关的听力损失(ARHL)是老年人中最常见的感觉障碍,在不小于65岁的成年人中影响的比例大约为三分之一,尽管有许多人受其影响,ARHL仍然是一个未满足临床需求的领域,并且到目前为止只检测了一部分ARHL易感基因。

最近,有研究人员为了进一步的调查ARHL的遗传情况,在464名意大利ARHL患者中分析了46个ARHL候选基因,这些基因来源于之前的GWAS数据、文献和动物模型。研究人员根据致病性预测、公共数据库中的等位基因频率和113名健康匹配对照以及81名健康的不小于105岁的老人的等位基因频率对变异进行了过滤。数据分析过后,所有感兴趣的变异通过生信方法或者体外试验方法进行测试,从而来评估它们的致病作用。研究人员还在小鼠或者斑马鱼内耳中检测了变异基因的表达。上述多步研究鉴定了极罕见的可能致病性变异DCLK1、SLC28A3、CEP104和PCDH20,首次阐释了这些基因与ARHL的关系。

最后,研究人员指出,他们的结果为该复杂的、异质性的和高频障碍的分子基础提供了必要的认识,为未来的创新治疗和预防提供了新的可能靶标,并改善数百万人的生活质量。

原始出处:

M Di Stazio , A Morgan , M Brumat et al. New Age-Related Hearing Loss Candidate Genes in Humans: An Ongoing Challenge. Gene. 12 Mar 2020.

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    2020-06-02 cy0324
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    2020-04-05 wxl882001

    了解一下

    0

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    2020-04-02 ysjykql

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