Telomerase is an enzyme, more specifically a reverse transcriptase, that adds telomeres to the ends of DNA. Telomeres is the end of a eukaryotic chromosome, consisting of a short nucleotide segment that repeats from a few dozen times to several hundred times. They basically make up for the inability of DNA polymerase to fully replicate the 3' linear chromosome ends. Telomerase consists of two parts, TERT (catalytic telomerase reverse transcriptase) and TR (telomerase RNA), and functions as a ribonucleoprotein. There have also been several accessory proteins that have been identified that function in the regulation, biogenesis, and localization of the enzyme. Understanding telomerase's molecular mechanisms is essential to developing therapies for disorders and cancers that are related to telomerase.
Idiopathic pulmonary fibrosis, or IPF, is the most common type of telomere-related disease. Mutations in hTERT and hTR genes are the cause of the defect. These mutations can lead to extra-pulmonary complications that result from telomere shortening. These complications include bone marrow failure. There is also evidence that points towards IPF being a manifestation of telomere syndromes that were autosomal dominant. With each generation, it evolved from pulmonary fibrosis to disorder that is predominantly related to bone-marrow failure. The article goes on to explain the the significance in defects of telomere for understanding the disease patterns, pathophysiology, and genetics of idiopathic pulmonary fibrosis.
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