AluYb8 insertion polymorphism in the MUTYH gene impairs mitochondrial DNA maintenance and affects the age of onset of IPF.

ABSTRACT: BACKGROUND:Idiopathic pulmonary fibrosis (IPF) is an age-related fatal disease with an unknown etiology. Increased oxidative stress and mitochondrial dysfunction are thought to be involved in its pathogenesis. However, the effect of the AluYb8MUTYH polymorphism on IPF is not known. RESULTS:The mean age of onset for IPF in patients homozygous for the AluYb8MUTYH variant (P/P) was 66.5 years old, which was significantly earlier than that in patients with the wild-type (A/A, 70.45 years old). For the 97 male IPF patients with lung function data, the FVC% of the P/P patients was lower than that of the wild-type (A/A) or heterozygous (A/P) patients. The laboratory analysis indicated that an increased mtDNA content and impaired mitochondrial quality control were associated with the P/P genotype.

SUBMITTER: Zhou W 

PROVIDER: S-EPMC6382421 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature