Abnormal insulin molecules: An alternative cause of diabetes?
1984
Ziporyn, Terra
Recent work is reviewed and discussed concerning findings of evidence of chemical structural abnormalities in the insulin biosynthesis pathway in several individuals. Normal insulin consists of 2 chains: an "A" chain containing a 21 amino acid sequence, and a "B" chain containing a 30 amino acid sequence. Substitution of a cytosine by a thymine gave rise to abnormal insulin. It appears that anomalies can result from a genetic mutation in 1 amino acid at a key point in the insulin or proinsulin molecule. While the number of diabetic patients with detectable abnormal insulin as the source of their hyperglycemia is small, patients might have mutations in less crucial parts of the insulin molecule and appear to have a much less severe disorder. Further, some patients that appear to have an insulin deficiency may have genetic coding sequence abnormalities producing more extreme effects. The significance of these findings and the need for further research in this area are discussed. (wz)
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