摘要
线粒体凋亡诱导因子1(apoptosis-inducing factor,mitochondrion-associated 1,AIFM1)基因编码具有细胞凋亡作用及氧化还原功能的细胞凋亡诱导因子(apoptosis-inducing factor,AIF)蛋白。AIF在人体组织细胞内广泛表达,在线粒体中发挥重要作用。AIFM1基因突变与严重的X连锁线粒体脑肌病、Cowchock综合征、X-连锁的脊椎外骺端发育不良伴髓鞘性脑白质营养不良、听神经病变等疾病相关。AIFM1基因突变表现出广泛的临床表型,但突变与表型、表型严重程度之间的发病机制仍不明确。该文总结已报道的AIFM1基因突变相关位点、表型、可能致病机制,对AIFM1基因突变相关疾病及进展作一综述。
The apoptosis-inducing factor,mitochondrion-associated 1(AIFM1)gene encodes an apoptosis-inducing factor(AIF)protein with apoptosis and redox function.AIF is widely expressed within cells in human tissues,and playing an important role in the mitochondria.Mutations in the AIFM1 gene are associated with severe X-linked mitochondrial encephalomyopathy,Cowchock syndrome,X-linked spondyloepimeta-physeal dysplasia with hypomyelinating leukodystrophy,auditory neuropathy and other diseases.AIFM1 gene mutations exhibit a wide range of clinical phenotypes,but the pathogenesis between mutations and phenotypes and phenotypic severity remains unclear.This paper summarizes the reported AIFM1 mutation-related loci,phenotypes,and possible pathogenesis mechanisms,and provide a brief review of AIFM1 mutation-related diseases and their progression.
作者
卢慧玲(综述)
钟柏茂(审校)
Lu Huiling;Zhong Baimao(Pediatric Intensive Care Unit,Dongguan Children′s Hospital Affiliated to Guangdong Medical University,Dongguan 523325,China)
出处
《国际儿科学杂志》
2023年第3期205-209,共5页
International Journal of Pediatrics
基金
广东省卫生健康委员会广东省医学科研基金(A2020261)
广东省基础与应用基础研究基金(粤莞联合基金)(2020A1515110186)。
