Telomerase mutations in families with idiopathic pulmonary fibrosis

Article Abstract:

Seventy three probands for mutations in the genes hTERT and hTR were screened to test the hypothesis that familial idiopathic pulmonary fibrosis might be caused by short telomers. Mutations in the genes encoding telomerase components were found to appear as familial idiopathic pulmonary fibrosis, supporting the premise that pathways leading to telomere shortening are involved in the pathogenesis of the disease.

Genetic code, Clinical report

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Idiopathic pulmonary fibrosis - New insights

Article Abstract:

Idiopathic pulmonary fibrosis is an unrelenting and progressive disease that affects more than 5 million patients globally with no effective treatment for it. Some researchers are however, providing new insights into the molecular mechanism of the disease, indicating that caveolin-1 is a novel and essential regulator of fibroblast proliferation.

Risk factors

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Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia

Article Abstract:

An attempt is made to investigate whether mutations in genes for other components of telomerase occur in aplastic anemia or not. Heterozygous mutations in telomerase reverse transcriptase (TERT) gene impair telomerase activity by haploinsufficiency and may be risk factors for marrow failure.

New England States, Gene mutations, Gene mutation, New England, Aplastic anemia

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