Searching across hundreds of databases

Our searching services are busy right now. Your search will reload in five seconds.

X
Forgot Password

If you have forgotten your password you can enter your email here and get a temporary password sent to your email.

X
Forgot Password

If you have forgotten your password you can enter your email here and get a temporary password sent to your email.

Telomerase mutations in families with idiopathic pulmonary fibrosis.

BACKGROUND: Idiopathic pulmonary fibrosis is progressive and often fatal; causes of familial clustering of the disease are unknown. Germ-line mutations in the genes hTERT and hTR, encoding telomerase reverse transcriptase and telomerase RNA, respectively, cause autosomal dominant dyskeratosis congenita, a rare hereditary disorder associated with premature death from aplastic anemia and pulmonary fibrosis. METHODS: To test the hypothesis that familial idiopathic pulmonary fibrosis may be caused by short telomeres, we screened 73 probands from the Vanderbilt Familial Pulmonary Fibrosis Registry for mutations in hTERT and hTR. RESULTS: Six probands (8%) had heterozygous mutations in hTERT or hTR; mutant telomerase resulted in short telomeres. Asymptomatic subjects with mutant telomerase also had short telomeres, suggesting that they may be at risk for the disease. We did not identify any of the classic features of dyskeratosis congenita in five of the six families. CONCLUSIONS: Mutations in the genes encoding telomerase components can appear as familial idiopathic pulmonary fibrosis. Our findings support the idea that pathways leading to telomere shortening are involved in the pathogenesis of this disease.

Pubmed ID: 17392301 RIS Download

Mesh terms: Female | Genes, Dominant | Heterozygote | Humans | Male | Mutation | Mutation, Missense | Pedigree | Pulmonary Fibrosis | RNA | Radiography | Reverse Transcriptase Polymerase Chain Reaction | Telomerase | Telomere

Research resources used in this publication

None found

Research tools detected in this publication

None found

Data used in this publication

None found

Associated grants

  • Agency: PHS HHS, Id: K08 118416
  • Agency: NIA NIH HHS, Id: R01 AG027406
  • Agency: NCRR NIH HHS, Id: M01 RR-00095
  • Agency: PHS HHS, Id: K08 85406
  • Agency: NHLBI NIH HHS, Id: K08 HL085406
  • Agency: NIAID NIH HHS, Id: AI29524

Comparative Toxicogenomics Database (Data, Disease Annotation)

Publication data is provided by the National Library of Medicine ® and PubMed ®. Data is retrieved from PubMed ® on a weekly schedule. For terms and conditions see the National Library of Medicine Terms and Conditions.

We have not found any resources mentioned in this publication.