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与WDR45相关的脑病变模仿与复合I缺陷相关的利氏综合征:一个病例报告

Giulia Ferrera¹, Kevork Derderian^2,3, Rossella Izzo⁴

¹Child Neurology Unit - Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133, Milan, Italy.

European journal of human genetics : EJHG

|November 23, 2024

概括

致病性WDR45变体会导致神经发育障碍 (NDD). 这项研究将WDR45与线粒体功能障碍联系起来,特别是复杂I缺乏症,为BPAN病变产生提供了新的见解.

科学领域:

遗传学是一个遗传学.
神经科学是一个神经科学.
线粒体生物学线粒体生物学

背景情况:

致病性WDR45变体与神经发育障碍 (NDD) 有关,包括β-螺旋蛋白相关的神经退行 (BPAN).
BPAN通常表现为发育迟缓,性衰竭和超金字塔症状.
线粒体疾病 (MDs) 可以模仿BPAN表型,使诊断复杂化.

研究的目的:

调查与WDR45相关的NDD的潜在机制,该NDD呈现Leigh类脑病变表型.
探索线粒体功能障碍在WDR45相关疾病中的潜在作用.
确定WDR45变体与呼吸链复杂缺陷之间的联系.

主要方法:

儿科患者的临床评估和神经成像 (MRI).
生物化学分析患者衍生肌肉和纤维细胞中呼吸链复合物的活性.
整体外基因组测序以识别致病变体.
自流量分析. 自流量分析.

主要成果:

该患者表现出智力障碍,心力衰竭和性,MRI发现表明利氏综合征,但没有脑铁积累.
观察到呼吸链复合物I (cI) 和复合物II (cII) 的活性降低.
外体测序发现了一种新的致病性WDR45变异.
这项研究是首次报告WDR45和受损CI组装和活动之间的联系.

结论:

线粒体功能障碍,特别是CI缺乏,是WDR45相关的NDD/BPAN的潜在病理生理机制.
与WDR45相关的NDD应在早期发病的NDD的差异诊断中考虑,特别是具有CI缺乏的利氏类脑病,即使没有脑铁.
这一发现扩大了对BPAN分子基础和诊断标准的理解.

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