Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations.

ABSTRACT:

Background

Telomerase is an enzyme that catalyzes the addition of nucleotides on the ends of chromosomes. Rare loss of function mutations in the gene that encodes the protein component of telomerase (TERT) have been described in patients with idiopathic pulmonary fibrosis (IPF). Here we examine the telomere lengths and pulmonary fibrosis phenotype seen in multiple kindreds with heterozygous TERT mutations.

Methods and findings

We have identified 134 individuals with heterozygous TERT mutations from 21 unrelated families. Available medical records, surgical lung biopsies and radiographs were evaluated retrospectively. Genomic DNA isolated from circulating leukocytes has been used to measure telomere lengths with a quantitative PCR assay. We find that telomere lengths of TERT

SUBMITTER: Diaz de Leon A 

PROVIDER: S-EPMC2873288 | biostudies-literature | 2010 May

REPOSITORIES: biostudies-literature