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Chronic pancreatitis caused by a genetic mutation

Written by Dr. H. P. Bustami

Saturday, 19 January 2008

p.R254W Variance. A shift from thymin to cytosine causes a shift in the aminoacid order of the enzyme Chymothrypsin. Courtesy: University of Leipzig

Decades of alcohol consume can cause a disorder in the pancreas which leads to chronic pancreatitis. This disease often ends deadly. Now scientists from an international research team discovered a genetic mutation responsible for chronic pancreatitis. A Cytosine-Thymin-mutation brings a translatory shift within the aminoacid order of Chimotrypsin, a derivate of Thrypsin, the enzyme responsible for digestion of proteins. Groups of patients from Germany and India were investigated.

Obviously in those groups with chronic pancreatitis this special mutation is more frequent than in other population groups. This accounts for both the indian and the german control group indicating a worldwide importance of this until unknown mechanism. If the mutation is present the regulatory role of Chemotrypsin is disturbed and the enzyme Trypsin can no longer be degraded in the pancreas. This leads to self digestion of the pancreas and acute and chronic pancreatitis.

This new insights may help to understand and cure the outbreak of this serious disease which not only is caused by alcohol consume.

Source:

- Rosendahl et al. (2008): Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis, Nature Genetics. January 2008, Volume 40.

- idw-online.de

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