Analysis Of Codon Usage Patterns In Genes Related To Amyotrophic Lateral Sclerosis (ALS)

Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease marked by motor neuron degeneration and complex genetic underpinnings. Despite growing research into its molecular pathology, the role of codon usage bias (CUB) in ALS-related genes remains largely unexplored. In this...

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Autore principale: Marwa, Safa
Natura: Tesi
Lingua:inglese
Pubblicazione: AUW 2025
Accesso online:https://repository.auw.edu.bd/handle/123456789/541
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author Marwa, Safa
author_facet Marwa, Safa
author_sort Marwa, Safa
collection institutional Repository
description Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease marked by motor neuron degeneration and complex genetic underpinnings. Despite growing research into its molecular pathology, the role of codon usage bias (CUB) in ALS-related genes remains largely unexplored. In this study, we analyzed 607 ALS-associated genes and compared them with 138 human housekeeping genes to examine differences in codon usage. Using tools such as CAIcal and CodonW, we assessed nucleotide composition, GC content, RSCU values, ENC, neutrality plots, and parity plots. Statistical testing (Mann–Whitney U test) revealed 15 codons with significant usage differences between ALS and non-disease genes. These codons were further used as features in machine learning models (KNN, SVM, RF), where Random Forest achieved the highest classification accuracy (85.9%). Our results indicate that ALS genes are characterized by GC-rich codon preferences influenced by natural selection and functional constraints, likely related to translational efficiency and gene expression optimization. This codon-level distinction has implications for ALS biomarker discovery and the rational design of therapeutic gene constructs.
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spelling 123456789-5412026-02-18T06:09:56Z Analysis Of Codon Usage Patterns In Genes Related To Amyotrophic Lateral Sclerosis (ALS) Marwa, Safa Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease marked by motor neuron degeneration and complex genetic underpinnings. Despite growing research into its molecular pathology, the role of codon usage bias (CUB) in ALS-related genes remains largely unexplored. In this study, we analyzed 607 ALS-associated genes and compared them with 138 human housekeeping genes to examine differences in codon usage. Using tools such as CAIcal and CodonW, we assessed nucleotide composition, GC content, RSCU values, ENC, neutrality plots, and parity plots. Statistical testing (Mann–Whitney U test) revealed 15 codons with significant usage differences between ALS and non-disease genes. These codons were further used as features in machine learning models (KNN, SVM, RF), where Random Forest achieved the highest classification accuracy (85.9%). Our results indicate that ALS genes are characterized by GC-rich codon preferences influenced by natural selection and functional constraints, likely related to translational efficiency and gene expression optimization. This codon-level distinction has implications for ALS biomarker discovery and the rational design of therapeutic gene constructs. 2025-07-13T07:03:32Z 2025-07-13T07:03:32Z 2025-04 Thesis https://repository.auw.edu.bd/handle/123456789/541 en application/pdf AUW
spellingShingle Marwa, Safa
Analysis Of Codon Usage Patterns In Genes Related To Amyotrophic Lateral Sclerosis (ALS)
title Analysis Of Codon Usage Patterns In Genes Related To Amyotrophic Lateral Sclerosis (ALS)
title_full Analysis Of Codon Usage Patterns In Genes Related To Amyotrophic Lateral Sclerosis (ALS)
title_fullStr Analysis Of Codon Usage Patterns In Genes Related To Amyotrophic Lateral Sclerosis (ALS)
title_full_unstemmed Analysis Of Codon Usage Patterns In Genes Related To Amyotrophic Lateral Sclerosis (ALS)
title_short Analysis Of Codon Usage Patterns In Genes Related To Amyotrophic Lateral Sclerosis (ALS)
title_sort analysis of codon usage patterns in genes related to amyotrophic lateral sclerosis als
url https://repository.auw.edu.bd/handle/123456789/541
work_keys_str_mv AT marwasafa analysisofcodonusagepatternsingenesrelatedtoamyotrophiclateralsclerosisals