Progress on AIFM1 gene mutation related diseases
10.3760/cma.j.issn.1673-4408.2023.03.014
- VernacularTitle:AIFM1基因突变相关疾病研究进展
- Author:
Huiling LU
1
;
Baimao ZHONG
Author Information
1. 广东医科大学附属东莞市儿童医院儿科重症监护病房 523325
- Keywords:
AIFM1 gene;
Apoptosis-inducing factor;
Mutation
- From:
International Journal of Pediatrics
2023;50(3):205-209
- CountryChina
- Language:Chinese
-
Abstract:
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.
