Constitutional telomerase mutations are genetic risk factors for cirrhosis

• Published in: Hepatology (Baltimore, Md.) Vol. 53; no. 5; pp. 1600 - 1607
• Main Authors: Calado, Rodrigo T., Brudno, Jennifer, Mehta, Paulomi, Kovacs, Joseph J., Wu, Colin, Zago, Marco A., Chanock, Stephen J., Boyer, Thomas D., Young, Neal S.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.05.2011; Wiley; Wiley Subscription Services, Inc
• Subjects: Adult; Aged; Biological and medical sciences; Female; Gastroenterology. Liver. Pancreas. Abdomen; Genes; Hepatology; Humans; Liver cirrhosis; Liver Cirrhosis - genetics; Liver. Biliary tract. Portal circulation. Exocrine pancreas; Male; Medical sciences; Middle Aged; Mutation; Mutation, Missense; Other diseases. Semiology; Risk Factors; Telomerase; Telomerase - genetics; Young Adult; Cirrhosis; Risk factor; Gastroenterology; Digestive diseases; Hepatic disease; Mutation; Genetic determinism

Some patients with liver disease progress to cirrhosis, but the risk factors for cirrhosis development are unknown. Dyskeratosis congenita, an inherited bone marrow failure syndrome associated with mucocutaneous anomalies, pulmonary fibrosis, and cirrhosis, is caused by germline mutations of genes i...