Modeling of Genetic Mutations Associated with Protein Pathway Common in Alzheimer, Parkinson and Macular Degeneration Diseases

Ghahremani, Amin | 2020

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  1. Type of Document: M.Sc. Thesis
  2. Language: Farsi
  3. Document No: 52817 (05)
  4. University: Sharif University of Technology
  5. Department: Electrical Engineering
  6. Advisor(s): Jahed, Mehran; Hossein Khalaj, Babak; Shahpasand, Kourosh
  7. Abstract:
  8. Extensive studies have been performed on the genetic variations involved in common neurodegenerative diseases such as Alzheimer's, macular degeneration, and Parkinson's. In most cases, no specific gene has been identified pointing to a distinct pathogenic pathway, therefore, this study mainly aims to find common genes among aforementioned diseases according to determination of a specific pathogenic protein pathway.In this study, we reached a deep understanding of the function of nervous system and the discovery of causative agents of the diseases by applying the sources of information from genome datasets in bioinformatics analysis. The utilized database comprises the classification of genome-wide association studies (GWAS) along with information on experimental and medical experiments. Extracted genes for each disease were categorized by a model based on communicating pathways algorithms using machine learning methods based on the name of disorders and the rating of the genes involved in each disease based on the reports in the database. The implementation process of this model was based on data mining, in which, as input, a discrete set of phenotypic characteristics were selected, and then, a set of candidate genes with a probability of being associated with the phenotype was presented as output.After applying this model, related genes for each disease were extracted, and gene intersection was calculated. Common genes were reported regarding to filter relevance ( ) and finally seven genes including APOE were detected as the common candidate gene among all three diseases. Gene expression data of 73 individuals (29 Parkinson's disease and 44 healthy-control) applied to validate this gene in the aforementioned diseases, and the APOE gene with acceptable probability ( ) was selected as the most effective gene in Parkinson's disease
  9. Keywords:
  10. Alzheimer ; Parkinson Disease ; Data Mining ; Machine Learning ; Genetic Mutation ; Age-Related Macular Degeneration (AMD) ; Gene Expression Data ; Bioinformatics ; Phenolyser Database

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