Gao Peng, Chen Haoran, Sun Yangyang, Qian Xin, Sun Tao, Fan Yuhan, Zhang Jing
Department of Neurosurgery, General Hospital of Ningxia Medical University, Yinchuan, Ningxia Province, 750004, China.
Ningxia Key Laboratory of Cerebrocranial Diseases, The Incubation Base of National Key Laboratory, Ningxia Medical University, Yinchuan, Ningxia Province, 750004, China.
Neurochem Res. 2024 Dec 14;50(1):60. doi: 10.1007/s11064-024-04300-y.
The ALG13 gene encodes a subunit of the uridine diphosphate-N-acetylglucosamine (UDP-GlcNAc) transferase enzyme, which plays a key role in the N-linked glycosylation pathway. This pathway involves the attachment of carbohydrate structures to asparagine (Asn) residues in proteins within the endoplasmic reticulum, by which N-glycosylated proteins produced participate a wide range of processes such as electrical gradients formation and neurotransmission. Mutations in the ALG13 gene have been identified as a causative factor for congenital disorders of glycosylation (CDG) and have been frequently associated with epilepsy in affected individuals. Several studies have demonstrated a strong correlation between abnormal N-glycosylation due to ALG13 deficiency and the onset of epilepsy. Despite these findings, the precise role of ALG13 in the pathogenesis of epilepsy remains unclear. This review provides a comprehensive overview of the current literature on ALG13-related disorders, with a focus on recent evidence regarding its role in epilepsy development and progression. Future research directions are also proposed to further elucidate the molecular mechanisms underlying this association.
ALG13基因编码尿苷二磷酸-N-乙酰葡糖胺（UDP-GlcNAc）转移酶的一个亚基，该酶在N-糖基化途径中起关键作用。此途径涉及在内质网中碳水化合物结构与蛋白质中天冬酰胺（Asn）残基的连接，通过这种方式产生的N-糖基化蛋白参与多种过程，如电位梯度形成和神经传递。ALG13基因突变已被确定为先天性糖基化障碍（CDG）的致病因素，并且在受影响个体中经常与癫痫相关。多项研究表明，由于ALG13缺乏导致的异常N-糖基化与癫痫发作之间存在密切关联。尽管有这些发现，但ALG13在癫痫发病机制中的精确作用仍不清楚。本综述全面概述了目前关于ALG13相关疾病的文献，重点关注其在癫痫发生和发展中作用的最新证据。还提出了未来的研究方向，以进一步阐明这种关联背后的分子机制。
