Transient Neonatal Diabetes Associated with Chromosome 6Q24 Imprinting Abnormalities. Part 2. Epidemiology, Etiology and Pathogenesis
Journal Title: Здоров`я дитини - Year 2016, Vol 1, Issue 69
Abstract
This article describes the genetic variants of transient neonatal diabetes, the incidence of different genetic defects in patients with 6q24-TNDM syndrome. There were presented in detail the mechanisms of genetic disorders leading to this disease. It is shown that the development of 6q24-TNDM is associated with paternal uniparental disomy of chromosome 6, unbalanced q24 duplication on the copy of paternal chromosome 6 and ICR hypomethylation on the maternal copy of chromosome 6q24. Deficiency of gene expression of transcription factor PDX-1 plays an important role in the regeneration of the pancreas and in the differentiation of β-cells, and high rate of proliferation and apoptosis of the cells is associated with imbalance in the production of insulin and the need for it. There was indicated the role of ZAC1 protein in the pathogenesis of the disease.
Authors and Affiliations
O. Ye. Abaturov, O. L. Kryvusha, V. I. Ivashina, D. V. Lohvinov, S. V. Turova
Keywords
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- EP ID EP198245
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