Open Access Open Access  Restricted Access Subscription or Fee Access

Deciphering Neuroinformatics in the Gene Profiling of Mental Retardation using the Tool Geneious Pro and Cytoscape Software

P. Shanmughavel, Maria Infanshia Sajini, K. Praveen Kumar, Murugesh Easwaran, Gowdham ., D. Sudarsanam

Abstract


Mental retardation (MR) is defined as an overall intelligence quotient lower than 70, associated with functional deficit in adaptive behavior, such as daily-living skills, social skills and communication. Genetic abnormalities frequently give rise to a mental retardation phenotype. The prevalence of mental disability in India was found to be 2.3%. The prevalence was higher among females (3.1%) than among males (1.5%) with a higher finding among the elderly age group and illiterates. MR represents one of the most difficult challenges faced today by clinician and geneticists. The diagnostic possibilities for genetically determined mental retardation have considerably expanded in recent years because of the introduction of new techniques for chromosomal analysis with higher resolution and the identification of the genetic defects underlying many monogenic diseases. Nonetheless, the etiology of genetically determined MR can still only be found in about half of all patients. The greatest problem lies in the area of non-syndromic mental retardation, which, though very common, has not been very intensively investigated to date. Many different genetic abnormalities can cause non-syndromic MR. The purpose of this review is to provide an overview on the remarkable progress achieved over the last decade in relation with all genetic diseases such as downs syndrome, autism etc. and to highlight the emerging biological and cellular processes and pathways that are connected to all these genetic disorders. The phenotypes of genes causing syndromic and nonsyndromic, monogenic neurogenesis, ce llular processing in synaptic function, transcriptional signaling cascade of mental retardation. To identify the gene source for MR dependent diseased sample, retrieving sequence and developing consensus alignment of screened gene using Geneious Pro and to perform Single consensus alignment using Cytoscape and to resort to Multiple consensus alignment using Cytoscape. The important 15 genes which are interrelated with several genetic diseases were found and a huge network was created.

 

Keywords: Mental retardation, Monogenic neurogenesis, Syndromic and non-syndromic, Cellular processing in synaptic function, Transcriptional signaling cascade, Geneious Pro, Cytoscape

 

Cite this Article

Sajini Maria Infanshia, Kumar K. Praveen, Easwaran Murugesh et al. Deciphering Neuroinformatics in the Gene Profiling of Mental Retardation using the Tool Geneious Pro and Cytoscape Software. Research & Reviews: A Journal of Bioinformatics, 2015; 2(2): 25–48p.


Full Text:

PDF

Refbacks

  • There are currently no refbacks.


Copyright (c) Research & Reviews: A Journal of Bioinformatics