OMICS Publishing Group | Full text | Computational Analysis of Mutations in Neonatal Diabetes (KCNJ11) Gene Reveals no Relation with Microsatellites

Computational Analysis of Mutations in Neonatal Diabetes (KCNJ11) Gene Reveals no Relation with Microsatellites

Allam Appa Rao, Gunna Kishore^*, Ravikanth Satapati, Susmitha Gogula

Department of Computer Science and Systems Engineering, Andhra University, Visakhapatnam-530003, India

Citation: Allam AR, Gunna K, Ravikanth S, Susmitha G (2008) Computational Analysis of Mutations in Neonatal Diabetes (KCNJ11) Gene Reveals no Relation with Microsatellites. J Proteomics Bioinform S1: S046-S049. doi:10.4172/jpb.s1000008

Copyright: © 2008 Allam AR, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

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.

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. Intrauterine growth restriction, failure to thrive, fever, dehydration, hyperglycemia and acidosis with or without ketonuria are the clinical features of the disease. Monogenic forms of diabetes account for about 1 to 5 percent of all cases of diabetes in young people. In most cases of monogenic diabetes, the gene mutation is inherited; in the remaining cases the gene mutation develops spontaneously. Most mutations in monogenic diabetes reduce the body’s ability to produce insulin, a protein produced in the pancreas that helps the body use glucose for energy. Neonatal diabetes mellitus (NDM) and maturity-onset diabetes of the young (MODY) are the two main forms of monogenic diabetes. MODY is much more common than NDM. NDM first occurs in newborns and young infants; MODY usually first occurs in children or adolescents but may be mild and not detected until adulthood . Micro satellites are known to be highly polymorphic due to the high rate of mutations in their tracts (Fan H , Chu, J.Y 2007 ). These mutations can be either in the form of increase / decrease of repeat units or in the form of single nucleotide substitutions/ deletions/insertions and other events (Li, Y.C., Korol, A.B., Fahima, T. and Nevo, E. 2004 ) . 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 ). Point mutations (Substitutions and Indels) are also found to occur at a higher rate in micro satellites than elsewhere (Stenson 2003 et al ). Micro satellite mutations with in or near certain genes are known to be responsible for some human neurodegenerative diseases. So, we made a brief study to check whether the mutations in this KCNJ11 gene have any relation with these micro satellites repeats and the study revealed the following results.

Table 1: List of Mutations HGMDMaterials.

Mudunuri SB, Nagarajaram HA (2007) IMEx:Imperfect Microsatellite Extractor. Bioinformatics 23: 1181-1187. » CrossRef » PubMed » Google Scholar

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