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偏头痛发病的线粒体遗传学机制研究进展

邱梦媛, 郭淮莲^*

北京大学人民医院神经内科，北京 100044

摘要

偏头痛(migraine)是临床常见的原发性头痛类型，其反复发作的特点严重影响患者的生活质量。2021年全球疾病负担报告数据显示偏头痛给患者、家庭及社会带来沉重负担。近年来，线粒体功能异常与偏头痛的关系逐渐引起人们的注意。研究表明，偏头痛发作期间骨骼肌细胞线粒体存在显著形态学改变(如线粒体肿胀、嵴断裂)，血小板线粒体存在生物化学异常(如呼吸链酶活性降低)。偏头痛患者脑组织能量代谢存在损伤，提示线粒体功能紊乱可能参与偏头痛的发病过程。随着高通量测序、靶向测序等技术的迭代升级，线粒体DNA (mitochondrial DNA, mtDNA)的遗传学变异逐渐成为偏头痛病因学研究的热点。研究发现，偏头痛患者mtDNA存在遗传学变异，可能通过调控线粒体能量代谢通路、诱发氧化应激反应等途径影响偏头痛的发生与发展。本文系统总结近年来偏头痛与mtDNA相关性的研究进展，重点梳理mtDNA变异的主要类型及特征，分析当前研究存在的争议与局限性，并展望未来研究方向，为偏头痛的病因探索提供重要参考。

关键词： 线粒体; 线粒体DNA; 基因; 偏头痛

Research progress on mitochondrial genetic mechanisms underlying the onset of migraine

QIU Meng-Yuan, GUO Huai-Lian^*

Department of Neurology, People's Hospital, Peking University, Beijing 100044, China

Abstract

Migraine is a common primary headache disorder in clinical practice, and its recurrent nature severely impairs patients' quality of life. Data from the 2021 Global Burden of Disease Study indicate that migraine imposes a heavy burden on patients, their families, and society. In recent years, the association between mitochondrial dysfunction and migraine has attracted increasing attention. Studies have demonstrated that during migraine attacks, skeletal muscle cells exhibit significant mitochondrial morphological changes (such as mitochondrial swelling and cristae disruption), while platelets show mitochondrial biochemical abnormalities (e.g., reduced respiratory chain enzyme activity). Impaired energy metabolism in the brain tissue of migraine patients suggests that mitochondrial dysfunction may be involved in the pathogenesis of migraine. With rapid advances in technologies such as high-throughput sequencing and targeted sequencing, genetic variations in mitochondrial DNA (mtDNA) have gradually become a research hotspot in the etiology of migraine. Several studies have identified mtDNA genetic variations in migraine patients, which may affect the onset and progression of migraine by regulating mitochondrial energy metabolism pathways and inducing oxidative stress. This article systematically summarizes recent research progress on the correlation between migraine and mtDNA, focuses on classifying the main types and characteristics of mtDNA variations, analyzes the controversies and limitations of current studies, and outlines future research directions, thereby providing an important reference for exploring the etiology of migraine.

Key words: Mitochondria; mtDNA; gene; migraine

收稿日期：　　录用日期：

通讯作者：郭淮莲　　E-mail:

DOI: 10.13294/j.aps.2026.0019

引用本文：

邱梦媛, 郭淮莲. 偏头痛发病的线粒体遗传学机制研究进展[J]. 生理学报 2026; 78 (1): 101-108.

QIU Meng-Yuan, GUO Huai-Lian. Research progress on mitochondrial genetic mechanisms underlying the onset of migraine. Acta Physiol Sin 2026; 78 (1): 101-108 (in Chinese with English abstract).