A research group in Bergen has discovered a new form of diabetes. In addition to high blood sugar levels, the disease is characterised by a decrease in pancreatic functioning and reduced fat absorption in the intestine. The discovery may have an impact on the treatment of more usual forms of diabetes.
Researchers from Haukeland University Hospital and the University of Bergen published an article in Nature Genetics, one of the highest ranked journals in the field of biomedicine. The article describes two families where doctors have diagnosed an unusually high incidence of diabetes among family members.
The pancreas has two distinct and maybe inter-related functions; the production and secretion of enzymes involved in digestion in the intestine (pancreatic juice) and the production of hormones including insulin, which is involved in the control of blood sugar levels. Problems with the enzyme-producing function of the pancreas are observed in diabetic patients, but the relationship between the different pancreatic functions, the contributing genetic factors and the disease are as yet poorly understood.
The discovery of a new form of diabetes stemmed from the closer study of the family members. This revealed that those family members with diabetes also had disrupted function of the pancreas digestive enzyme production; in particular the production of carboxyl ester lipase, which is a major component of pancreatic juice. The researchers undertook genetic studies and showed that the dysfunction was due to mutations of the gene that encodes for this particular pancreatic enzyme.
In their conclusions, the researchers underlined that carboxyl ester lipase exists in many different forms and that future investigations of patients with diabetes should also study the presence of these variants.
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