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线粒体DNA 13513G>A 突变导致Leber遗传性视神经病变,与成人开始的功能衰竭相关

Grace Swart¹, Clare L Fraser, Meena Shingde

¹Neurology Department (GS, GMH), Royal Prince Alfred Hospital, Sydney, Australia; Save Sight Institute (CLF), Faculty of Health and Medicine, University of Sydney, Sydney Australia; Pathology Department (MS), Westmead Hospital, Sydney, Australia; Radiology Department (EOT), Royal Prince Alfred Hospital, Sydney, Australia; Medical Genomics Department (AM), Royal Prince Alfred Hospital, Sydney, Australia; Ophthalmology Department (ML), Royal Prince Alfred Hospital, Sydney, Australia; Neurology Department (KA), Royal North Shore Hospital, Sydney, Australia; and Central Clinical School (GMH), Faculty of Health and Medicine, University of Sydney, Sydney, Australia.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society

|July 21, 2023

概括

勒伯遗传性视神经病变 (LHON) 和成人发病的病可以通过特定的线粒体DNA突变 (m.13513G>A) 联系在一起. 这一发现扩大了对线粒体疾病临床表现的理解.

科学领域:

遗传学是一个遗传学.
神经学神经学
腎臟病學 (nephrology) 是一種醫學專業.

背景情况:

勒伯遗传性视神经病变 (LHON) 是一种常见的线粒体疾病,很少与脏疾病有关.
三名患有成人发病功能衰竭的无关患者接受了LHON.
这些患者被发现具有异质体线粒体DNA突变,m.13513G>A.

研究的目的:

报告三例与成人发病功能衰竭相关的LHON病例.
为了确定这些患者的潜在遗传原因.
扩大已知的m.13513G>A线粒体DNA突变的临床谱.

主要方法:

三名患者的回顾性图表审查.
基因分析以确定线粒体DNA突变.
对临床表现,活检发现和治疗结果的审查.

主要成果:

这三名患者均出现双侧视神经病变和慢性功能衰竭.
在所有患者中都发现了MT-ND5基因的异质体m.13513G>A突变.
临床表现包括多种病态,在一个案例中,听力损失;通过像idebenone或补充剂这样的治疗,观察到轻微的视觉改善.

结论:

这种m.13513G>A突变与双边视神经病变和成人发病的病有关.
广泛的线粒体检测是建议双边视神经病变的患者,由于临床和遗传的变异性.
这些病例凸显了线粒体疾病所带来的诊断挑战.

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