Related Experiment Video

Updated: Jul 15, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

20.7K

Identification of Pathogenic Missense Mutations in the CHRNA5 Gene: A Computational Approach

Mahalakshmi Kumaraguru1, Leelavathi L1, Vijayashree J Priyadharsini2

  • 1Public Health Dentistry, Saveetha Dental College & Hospital, Saveetha Institute of Medical and Technical Sciences, Saveetha University, Chennai, IND.

Cureus
|November 29, 2023
PubMed

Insights

Genetic analysis identified harmful mutations in the CHRNA5 gene, potentially linking them to smoking behaviors and nicotine dependence. This research may guide future medication development for smoking-related disorders.

Area of Science:

  • Genetics
  • Pharmacology
  • Computational Biology

Background:

  • The CHRNA5/A3/B4 gene locus is implicated in nicotine dependence and smoking-related disorders.
  • Investigating genetic variations offers potential for novel medication development.
  • Understanding functional mutations is key to elucidating disease mechanisms.

Purpose of the Study:

  • To identify and analyze functional missense mutations within the human CHRNA5 gene.
  • To computationally predict the pathogenicity of CHRNA5 missense variants.
  • To explore the association between CHRNA5 mutations and smoking-related traits.

Main Methods:

  • Utilized the Ensembl database to collect human CHRNA5 missense variants.
  • Employed multiple computational tools including SIFT, PolyPhen, PROVEAN, I-Mutant, and MutPred.
  • Assessed the functional impact and pathogenicity of identified variants.

Main Results:

  • Analyzed 161 missense variants in the CHRNA5 gene.
  • Identified 94 highly pathogenic variants.
  • Classified 20 variants as pathogenic and 4 as non-pathogenic.

Conclusions:

  • Computational analysis revealed significant harmful mutations in the CHRNA5 gene.
  • These identified mutations are potentially associated with smoking-related traits.
  • Findings may contribute to understanding the genetic basis of nicotine dependence.
Keywords:
chrna5geneticsgenome-wide association studynicotine dependencesmoking

More Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.8K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.7K

Related Concept Videos

Mutations in Microorganisms01:18

Mutations in Microorganisms

Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
Point and Frameshift Mutations01:30

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...