Mutations in the Enzyme Glutamate Dehydrogenase, Leads to Congenital Hyperinsulism

Filed in archive Studies on June 8, 2006

A study that appears as "Paper of the Week" at the June 2 issue of the Journal of Biological Chemistry (an American Society for Biochemistry and Molecular Biology journal) confirms that mutations in the enzyme glutamate dehydrogenase can cause congenital hypersinsulism.

Congenital hyperinsulism is a group of genetic disorders that cause hypoglycemia in infants and children. Hypoglycemia is a dangerous condition that can cause seizures and permanent brain damage when not immediately detected and treated.

Majority of congenital hypersinsulism cases seem to be due to defects in insulin secretion by pancreatic cells. The current understanding is that: mutations in any of four different genes can cause this disorder. One of these four genes codes for the enzyme glutamate dehydrogenase, which is stimulated by the amino acid leucine that in turn triggers the release of insulin from pancreatic cells.

"These results were necessary to demonstrate that the mutations of glutamate dehydrogenase which we have found in patients are indeed responsible for causing disease. In addition, they provide an understanding of precisely how amino acids derived from dietary protein exert their effects of controlling insulin."

Read more at Science Daily.