alexa Gene Mutations in an Idiopathic Chronic Pancreatitis Case

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Gene Mutations in an Idiopathic Chronic Pancreatitis Case

Cystic Fibrosis Transmembrane Regulator (CFTR) gene harbors over 1910 mutations till date ( These mutations result in cystic fibrosis or other disease like Congenital Bilateral Absence of Vas Deferens (CBAVD), obstructive azoospermia, bronchiectasis, asthma and Chronic Pancreatitis (CP) etc. [1]. Chronic pancreatitis is a disease of pancreas that is characterized by permanent destruction and fibrosis of the exocrine parenchyma, leading to exocrine pancreatic insufficiency and progressive endocrine failure leading to diabetes. A familial aggregation nature of CP suggests genetic etiology without definitive mode of inheritance [2,3]. Extensive genetic studies on CP let to classification of hereditary CP and idiopathic CP. Hereditary CP has a penetrance of 70-80% with autosomal dominant inheritance [4]. Idiopathic CP too involves genetic factors but multigenic. The genetic loci reported to predispose CP includes: Serine Protease Inhibitor Kazal 1 (SPINK1), CFTR, CTRC, PRSS1 and cathepsin B (CTSB) [5]. In spite of definitive role of CFTR gene in CP pathogenesis, [6] there are contradictory reports that claim no association of CFTR gene [7,8]. However, recent studies have reported an increased occurrence of CFTR gene mutations in alcohol related CP patients [9,10]. In this case report, we have demonstrated the co-existence of CFTR and SPINK1 gene mutations in an Idiopathic CP cases.


Citation: Muthuswamy S, Singh S, Choudhuri G, Agarwal S (2015) Co-existence of CFTR and SPINK1 Gene Mutations in an Idiopathic Chronic Pancreatitis Case. Gene Technol 4:116. doi: 10.4172/2329-6682.1000116

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