溶酶体跨膜蛋白175在帕金森病中的研究进展OA
Research advances in lysosomal transmembrane protein 175 in Parkinson disease
帕金森病(PD)是一种复杂的神经系统变性疾病,以各种运动症状和非运动症状为特征.已有多项研究表明TMEM175基因可能是帕金森病及其他神经系统变性疾病治疗的潜在靶点,但具体致病机制尚不明确.跨膜蛋白175(TMEM175)是溶酶体蛋白编码基因,编码一种溶酶体质子通道蛋白.本文将对TMEM175基因及其编码的蛋白特征、基因突变型帕金森病的临床特征及其致病机制的研究进展进行综述.表明TMEM175对帕金森病的发病有影响,且不同突变位点发病年龄及临床特征也不同,TMEM175突变相较于非突变者发病年龄更早、运动症状更重,更易出现认知损害和非运动症状.本文通过系统综述TMEM175基因,旨在辅助帕金森病的早期诊断和发现新的疾病修饰疗法和治疗策略.
Parkinson disease(PD)is a complex neurodegenerative disorder characterized by a variety of motor and non-motor symptoms.Many studies have shown that the transmembrane protein 175(TMEM175)gene may be a potential target for the treatment of PD and other neurodegenerative disorders,but the specific pathogenic mechanism remains unclear.TMEM175 is a lysosomal protein-coding gene that encodes a lysosomal proton channel protein.This article reviews the research advances in the characterization of the TMEM175 gene and its encoded proteins,the clinical features of mutant PD,and related pathogenic mechanism.It is shown that the TMEM175 gene has an impact on the pathogenesis of PD,and patients with different mutation sites tend to have different ages of onset and clinical features.Compared with the patients without TMEM175 mutations,the patients with TMEM175 mutations tend to have an earlier age of onset,more severe motor symptoms,and more susceptibility to cognitive impairment and non-motor symptoms.This article systematically reviews the TMEM175 gene,in order to assist in the early diagnosis of PD and the discovery of new disease-modifying therapies and treatment strategies.
任芳丽;周旭;杨新玲
新疆医科大学第二附属医院,新疆 乌鲁木齐 830063新疆医科大学第二附属医院,新疆 乌鲁木齐 830063新疆医科大学,新疆 乌鲁木齐 830017
临床医学
帕金森病跨膜蛋白175TMEM175基因溶酶体功能缺陷α-突触核蛋白
Parkinson diseaseTransmembrane protein 175TMEM175 geneLysosomal dysfunctionα-synuclein
《中风与神经疾病杂志》 2025 (2)
121-125,5
国家自然科学基金面上项目(82371258)
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