Progress on AIFM1 gene mutation related diseases / 国际儿科学杂志

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.