Abstract
Gain-of-function mutations in the genes encoding the ATP-sensitive potassium (K (ATP)) channel subunit Kir6.2 (KCNJ11) is a common cause of neonatal diabetes mellitus.(de Wet H 2007 et al). Neonatal diabetes was defined as hyperglycemia that requires insulin treatment and occurs during the first month of life ,it is also known as monogenic diabetes of infancy, which includes both the permanent and the transient types (Barbetti F. Endocr Dev. 2007) and the mutations in KCNJ11 gene causes Neonatal diabetes(Mlynarski W 2007 et al). We tried to find out whether the presence of micro satellite or simple sequence repeats in the KCNJ11 gene has any significance in the generation of these mutations and checked whether these mutations are fallen in the regions of those microsatillites and if so is there any significance of these microsatillites in the functional domains of the each gene. Our analysis reveled that all the microsatellites (National diabetes information clearinghouse) of the KCNJ11 does not contain any mutations and these mutations also does not fall in the functional domains of the KCNJ11 thus indicating that here there is no role of microsatellites in the mutations of KCNJ11 gene.
Highlights
Neonatal diabetes mellitus is a rare form of Insulin dependent diabetes mellitus that present Within the first month of life, lasting at least two weeks and requiring insulin therapy
Increase or decrease of repeat units of micro satellites in coding regions might lead to shift in reading frames there by causing changes in protein product (Martin P 2005)and in non-coding regions are known to effect the gene regulation(Sibly 2003 et al)
All the 30 proved mutations except the mutations, which occur at codon numbers 12,23,34 and, 35 of the KCNJ11gene are falling inside the coding region and are eventually leading to phenotypic differences were collected from the Human Gene Mutation Database (HGMD)(Mudunuri S.B., Nagarajaram 2007)
Summary
Neonatal diabetes mellitus is a rare form of Insulin dependent diabetes mellitus that present Within the first month of life, lasting at least two weeks and requiring insulin therapy. Neonatal diabetes mellitus (NDM) and maturity-onset diabetes of the young (MODY) are the two main forms of monogenic diabetes. Micro satellites are known to be highly polymorphic due to the high rate of mutations in their tracts (Fan H , Chu, J.Y 2007).
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