TITLE

Mutations of the Cystic Fibrosis Gene, But Not Cationic Trypsinogen Gene, Are Associated With Recurrent or Chronic Idiopathic Pancreatitis

AUTHOR(S)
Ockenga, J.; Stuhrmann, M.; Ballmann, M.; Teich, N.; Keim, V.; Dörk, T.; Manns, M. P.
PUB. DATE
August 2000
SOURCE
American Journal of Gastroenterology;Aug2000, Vol. 95 Issue 8, p2061
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
OBJECTIVE: We investigated whether mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene and cationic trypsinogen gene are associated with recurrent acute, or chronic idiopathic pancreatitis. METHODS: Twenty patients with idiopathic pancreatitis (11 women, nine men; mean age, 30 yr) were studied for the presence of a CFTR mutation by screening the genomic DNA for more than 30 mutations and variants in the CFTR gene. Selected mutations of the cationic trypsinogen gene were screened by Afl III restriction digestion or by a mutation- specific polymerase chain reaction (PCR). In each patient exons 1, 2, and 3 of the cationic trypsinogen gene were sequenced. Patients with a CFTR mutation underwent evaluation of further functional electrophysiological test (intestinal current measurement). RESULTS: No mutation of the cationic trypsinogen gene was detected. A CFTR mutation was detected in 6/20 (30.0%) patients. Three patients (15.0%) had a cystic fibrosis (CF) mutation on one chromosome (ΔF508, I336K, YI092X), which is known to cause phenotypical severe cystic fibrosis. One patient was heterozygous for the 5T allele. hi addition, two possibly predisposing CFTR variants (R75Q, 1716G→A) were detected on four patients, one of these being a compound heterozygous for the missense mutation I336K and R75Q. No other family member (maternal I336K; paternal R75Q; sister I1336K) developed pancreatitis. An intestinal current measurement in rectum samples of patients with a CFTR mutation revealed no CF-typical constellations. CONCLUSIONS: CFTR mutations are associated with recurrent acute, or chronic idiopathic pancreatitis, whereas mutations of the cationic trypsinogen mutation do not appear to be a frequent pathogenetic factor.
ACCESSION #
17651769

 

Related Articles

  • Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis. Chandak, G. R.; Idris, M. M.; Reddy, D. N.; Bhaskar, S.; Sriram, P. V. J.; Singh, L. // Journal of Medical Genetics;May2002, Vol. 39 Issue 5, p347 

    Investigates mutations in the cationic trypsinogen and pancreatic secretory trypsin inhibitor genes in patients with tropical calcific pancreatitis (TCP). Role of the mutation in the pathogenesis of TCP; DNA analysis; Genetic bias for TCP.

  • Origin and implication of the hereditary pancreatitis-associated N21I mutation in the cationic trypsinogen gene. Jian-Min Chen; Ferec, Claude // Human Genetics;Jan2000, Vol. 106 Issue 1, p125 

    The N21I missense mutation in the cationic trypsinogen gene is the second most frequent mutation in hereditary pancreatitis (HP). In this article, we suggest that the N21I mutation most likely arose as a gene conversion event in which the functional anionic trypsinogen gene acted as the donor...

  • Absence of PRSS1 mutations and association of SPINK1 trypsin inhibitor mutations in hereditary and non-hereditary chronic pancreatitis. Chandak, G. R.; Idris, M. M.; Reddy, D. N.; Moni, K. R.; Bhaskar, S.; Rao, G. V.; Singh, L. // Gut;May2004, Vol. 53 Issue 5, p723 

    Background and aims: Mutations in the cationic trypsinogen (protease, serine, 1 (trypsin 1); PRSSI gene are causally associated with recurrent acute and chronic pancreatitis. We investigated whether mutations in the PRSS1 gene are associated with hereditary and non-hereditary pancreatitis. As a...

  • Newborn screening for cystic fibrosis: do we need a second IRT? Price, J. F. // Archives of Disease in Childhood;Mar2006, Vol. 91 Issue 3, p209 

    The article comments on the study that investigates the immunoreactive trypsinogen (IRT) levels of infants in the absence of cystic fibrosis (CF) gene mutations. The results of the study indicated that only a small portion of the babies with a neonatal IRT have CF and infants with an elevated...

  • The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis. Bishop, Michele D.; Freedman, Steven D.; Zielenski, Julian; Ahmed, Najma; Dupuis, Annie; Martin, Sheelagh; Ellis, Lynda; Shea, Julie; Hopper, Isobel; Corey, Mary; Kortan, Paul; Haber, Gregory; Ross, Christine; Tzountzouris, John; Steele, Leslie; Ray, Peter N.; Lap-Chee Tsui; Durie, Peter R. // Human Genetics;Dec2005, Vol. 118 Issue 3/4, p372 

    Cystic fibrosis transmembrane conductance regulator ( CFTR) gene mutations are associated with cystic fibrosis (CF)-related monosymptomatic conditions, including idiopathic pancreatitis. We evaluated prospectively enrolled patients who had idiopathic recurrent acute pancreatitis or idiopathic...

  • Two cases of chronic pancreatitis associated with anomalous pancreaticobiliary ductal union and SPINK1 mutation. Eun Sam Rho; Earl Kim; Hong Koh; Han-Wook Yoo; Beom Hee Lee; Gu-Hwan Kim // Korean Journal of Pediatrics;May2013, Vol. 56 Issue 5, p227 

    Chronic pancreatitis is a progressive inflammatory disease resulting from repeated episodes of acute pancreatitis that impair exocrine function and eventually produce endocrine insufficiency. Some causes of chronic pancreatitis appear to be associated with alterations in the serine-protease...

  • Extensive Sequencing of the CFTR gene: lessons learned from the first 157 patient samples. McGinniss, Matthew J.; Chen, Christina; Redman, Joy B.; Buller, Arlene; Quan, Franklin; Mei Peng; Giusti, Robert; Hantash, Feras M.; Donghui Huang; Weimin Sun; Strom, Charles M. // Human Genetics;Dec2005, Vol. 118 Issue 3/4, p331 

    Cystic fibrosis (CF) is one of the most common monogenic diseases affecting Caucasians and has an incidence of approximately 1:3,300 births. Currently recommended screening panels for mutations in the responsible gene (CF transmembrane regulator gene, CFTR) do not detect all disease-associated...

  • More progress in cystic fibrosis. McBride, Gail // BMJ: British Medical Journal (International Edition);9/29/90, Vol. 301 Issue 6753, p627 

    Focuses on the prevalence of mutations in the cystic fibrosis genes. Correlation of the prevalence of mutations with geographical area; Number of chromosomes carrying cystic fibrosis mutation in Denmark; Percent of mutations in Italy.

  • Molecular mechanisms of pancreatic stone formation in chronic pancreatitis. Shigeru B. H. Ko; Azuma, Sakiko; Yoshikawa, Toshiyuki; Yamamoto, Akiko; Kyokane, Kazuhiro; Minoru S. H. Ko; Ishiguro, Hiroshi // Frontiers in Physiology;Nov2012, Vol. 3, p1 

    Chronic pancreatitis (CP) is a progressive inflammatory disease in which the pancreatic secretory parenchyma is destroyed and replaced by fibrosis. The presence of intraductal pancreatic stone(s) is important for the diagnosis of CP; however, the precise molecular mechanisms of pancreatic stone...

Share

Read the Article

Courtesy of VIRGINIA BEACH PUBLIC LIBRARY AND SYSTEM

Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics