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telomere-associated hepatic diseases

Tuesday 30 March 2010

Telomerase is an enzyme specialized in maintaining telomere lengths in highly proliferative cells. Loss-of-function mutations cause critical telomere shortening and are associated with the bone marrow failure syndromes dyskeratosis congenita and aplastic anemia and with idiopathic pulmonary fibrosis.

Heterozygous telomerase loss-of-function mutations associate with but are not determinant of a large spectrum of hematologic and liver abnormalities, with the latter sometimes occurring in the absence of marrow failure.

Along with the link between pulmonary fibrosis and telomerase mutations, it suggests a common pathogenic mechanism for fibrotic diseases in which defective telomere repair plays important role.


- severe liver diseases

  • hepatic fibrosis
  • inflammation


- A spectrum of severe familial liver disorders associate with telomerase mutations. Calado RT, Regal JA, Kleiner DE, Schrump DS, Peterson NR, Pons V, Chanock SJ, Lansdorp PM, Young NS. PLoS One. 2009 Nov 20;4(11):e7926. PMID: 19936245