Mutations of the cationic trypsinogen in hereditary pancreatitis.

Article Details

Citation

Teich N, Mossner J, Keim V

Mutations of the cationic trypsinogen in hereditary pancreatitis.

Hum Mutat. 1998;12(1):39-43.

PubMed ID
9633818 [ View in PubMed
]
Abstract

Hereditary pancreatitis (OMIM 167800) is thought to be associated with a mutation of the exon 3 of cationic trypsinogen (Nature Genet (1996): 14:141-145). This paper reports sequence data of two independent families suffering from this disease. PCR amplificates from leukocyte or buccal swab DNA showed no mutation of exon 3 of cationic trypsinogen. Instead, in exon 2, an A-to-T tranversion was found that led to the substitution of Asn by Ile in the sixth amino acid of the active trypsin. In exons 4 and 5, silent mutations were found. In the other expressed trypsinogens, several homozygous alterations not associated to hereditary pancreatitis were identified. As a model of pathogenesis, we hypothesize that mutation of trypsinogen in exon 2 could lead to premature cleavage of the activation peptide of trypsinogen or to altered intracellular transport.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Trypsin-1P07477Details