Pancreatitis in fibrocalculous pancreatic diabetes mellitus is not associated with common mutations in the trypsinogen gene

• Published in: Diabetes/metabolism research and reviews Vol. 16; no. 6; pp. 454 - 457
• Main Authors: Hassan, Zahid, Mohan, Viswanathan, McDermott, Michael F., Ali, Liaquat, Ogunkolade, William B., Aganna, Ebun, Cassell, Paul G., Deepa, Raj, Azad Khan, A. K., Hitman, Graham A.
• Format: Journal Article
• Language: English
• Published: Chichester, UK John Wiley & Sons, Ltd 01.11.2000; Wiley
• Subjects: Adult; Bangladesh; Biological and medical sciences; Calcinosis - complications; Calcinosis - genetics; Chronic Disease; diabetes; Diabetes Mellitus - etiology; Diabetes Mellitus - genetics; Diabetes Mellitus, Type 2 - genetics; Diabetes. Impaired glucose tolerance; Endocrine pancreas. Apud cells (diseases); Endocrinopathies; Etiopathogenesis. Screening. Investigations. Target tissue resistance; Female; fibrocalculous pancreatic diabetes; Gastroenterology. Liver. Pancreas. Abdomen; Humans; Liver. Biliary tract. Portal circulation. Exocrine pancreas; Male; Medical sciences; Mutation; Other diseases. Semiology; pancreatitis; Pancreatitis - complications; Pancreatitis - genetics; Pedigree; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; tropical calcific pancreatitis; Tropical Climate; Tropical medicine; Trypsinogen - genetics; trypsinogen gene; Asia; Bangladesh; Endocrinopathy; Human; Diabetes mellitus; Pancreatitis; Clinical form; Genetic determinism; Trypsinogen; Gene; Etiology; Fibrosis; Lithiasis; Digestive diseases; Adult; Mutation; Pancreatic disease
• ISSN: 1520-7552; 1520-7560
• DOI: 10.1002/1520-7560(2000)9999:9999<::AID-DMRR155>3.0.CO;2-K

Background A distinct type of pancreatitis associated with diabetes, termed fibrocalculous pancreatic diabetes (FCPD), has been reported in tropical developing countries including Bangladesh. The molecular basis for autosomal dominant hereditary pancreatitis (HP) has recently been attributed to mutations in exons 2 and 3 of the trypsinogen gene. We have investigated the hypothesis that mutations in the aforementioned exons of this gene might also predispose to FCPD. Methods Seventy Bangladeshi and 50 South Indian unrelated FCPD patients and seven South Indian families with FCPD probands were studied. Pancreatic calcification was confirmed by abdominal X‐ray, ultrasound and/or ERCP. Established mutations of exons 2 and 3 of the trypsinogen gene were studied in these subjects by PCR‐RFLP analysis and DNA sequencing. Results The mutations found in hereditary pancreatitis were not observed in this collection of FCPD subjects, and complete DNA sequencing of exons 2 and 3 of the fourth cationic trypsinogen gene also excluded any new mutations. Conclusions These results indicate that chronic pancreatitis of FCPD is unlikely to be caused by common mutations in the trypsinogen gene. Copyright © 2000 John Wiley & Sons, Ltd.