Publications by authors named "E L Igudin"
The impairment of glucose homeostasis leads to hyperglycemia and type-2 diabetes mellitus. Glucokinase (GK), an enzyme that catalyzes the conversion of glucose to glucose-6-phosphate in pancreatic ß-cells, liver hepatocytes, specific hypothalamic neurons, and intestine enterocytes, is a key regulator of glucose homeostasis. In hepatocytes, GK controls the glucose uptake and glycogen synthesis and inhibits the glucose synthesis via the gluconeogenesis pathway.
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- A study identified two novel mutations in the glucokinase (GCK) gene associated with MODY2, including a substitution that disrupts normal splicing.
- The first mutation (c. 864-1G>C) prevents the use of the normal acceptor splice site, causing the activation of hidden splice sites and producing faulty RNA.
- The second mutation (c. 666C>G) leads to the creation of an abnormal donor splice site, resulting in a GCK mRNA that is missing 16 nucleotides from exon 6.
Novel mutation in CYP21A2 gene causing the steroid 21-hydroxylase deficiency - C to G substitution in 7-position ofintron 2 acceptor splice site (c.290-7C>G) was identified. The effect of the mutation on splicing was checked in the system of CYP21A minigene expression in the cultured mammalian cells.
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