Nat Genetics:三篇文章证实青光眼相关基因突变点
科技日报 · 2014/09/03
青光眼是导致人类失明的主要致盲眼病之一。最近,英国伦敦大学的研究人员在《自然遗传学》杂志上发表研究论文称,确认了4个新的与青光眼有关的基因突变位点,这一发现或将为未来开发青光眼的早期诊断和治疗手段奠定基础。


青光眼是一种常见的疑难眼病,病因多样,难以预防,患者眼内压力会间断或持续升高,若得不到及时治疗,将造成不可逆的视野丧失甚至失明,是导致人类失明的主要致盲眼病之一。最近,英国伦敦大学国王学院领导的一国际研究小组在《自然遗传学》杂志上发表研究论文称,他们研究确认了4个新的与青光眼有关的基因突变位点,这一发现或将为未来开发青光眼的早期诊断和治疗手段奠定基础。

研究人员通过对来自欧亚7个国家的35000多人的数据进行荟萃分析后获得了上述研究成果,这4个基因突变都与高眼压和青光眼有关的。其中一种突变发生在人们较为熟悉的ABO血型基因上,这种基因决定着人的血型,似乎在B型血个体中最为常见;还有一种突变发生在负责调控细胞胆固醇和血脂水平的ABCA1基因上,目前研究人员还不清楚这种基因在眼睛内部的运行机制,需要进一步深入研究来揭示突变基因是如何促使青光眼的发生的。

中国和澳大利亚研究人员发表在同期《自然遗传学》杂志上的另两篇研究论文也证实ABCA1与青光眼有关。

青光眼虽然很难治疗,但如果及早发现并及时治疗,还是可以降低其对视力的损害程度的。与青光眼相关基因突变的发现,使得未来对高危遗传风险人群进行密集筛查成为可能。而在早期治疗阶段,则可以围绕这些基因设计针对性治疗方案,例如可通过药物阻断基因生产蛋白或改变基因的表达方式来降低眼睛中ABCA1基因数量,达到减轻视神经和视网膜神经纤维所受压力的目的。

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