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Related Concept Videos

Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Pharmacogenetics of Drug Metabolism: Overview01:27

Pharmacogenetics of Drug Metabolism: Overview

Genetic polymorphism in drug metabolism is crucial to the inter-individual variability observed in drug responses. Drug metabolism primarily involves the chemical modification of drugs and other xenobiotics to enhance their elimination by increasing their polarity. Two main classes of enzymes mediate this biotransformation process: Phase I enzymes, primarily cytochrome P450s, catalyze oxidation and reduction reactions, while other enzymes, such as esterases, mediate hydrolysis, and Phase II...
Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

Pharmacogenetics and pharmacogenomics examine how genetic factors influence an individual's response to drugs. While pharmacogenetics focuses on the impact of specific genetic variants on drug effects, pharmacogenomics takes a broader approach, studying how genetic variation across populations contributes to differences in drug responses. These fields aim to explain why individuals may experience varying levels of efficacy or adverse reactions to the same medication.Variability in drug...

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Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms
08:46

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Functional non-synonymous polymorphisms prediction methods: current approaches and future developments.

M González-Castejón1, F Marín, C Soler-Rivas

  • 1IMDEA Food Institute, CLAID-PCM Building, Campus de Cantoblanco Madrid 28049, Spain.

Current Medicinal Chemistry
|November 5, 2011
PubMed
Summary
This summary is machine-generated.

Non-synonymous single nucleotide polymorphisms (nsSNPs) cause protein changes, impacting disease risk. Identifying functional nsSNPs aids drug development by revealing precise therapeutic targets and understanding genetic disease links.

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

Published on: April 4, 2018

Area of Science:

  • Genetics and Bioinformatics
  • Molecular Biology
  • Pharmacogenomics

Background:

  • Non-synonymous single nucleotide polymorphisms (nsSNPs) are genetic variations altering amino acid sequences, potentially leading to protein dysfunction and disease susceptibility.
  • Identifying functional nsSNPs is crucial for understanding disease mechanisms and developing targeted therapeutics.
  • Current research focuses on the molecular impact of nsSNPs on protein properties and disease correlation.

Purpose of the Study:

  • To review the molecular basis of nsSNP effects on protein structure, function, and interactions.
  • To summarize computational methods and resources for predicting nsSNP functionality.
  • To evaluate the functional and phenotypic consequences of specific nsSNPs in genes related to cholesterol metabolism.

Main Methods:

  • Literature review of molecular effects of missense mutations.
  • Summary of computational prediction tools for nsSNP functionality.
  • Analysis of nsSNPs in HMGCR (I638V) and LDLR (A370T) genes, focusing on protein stability, activity, and structure.

Main Results:

  • nsSNPs impact protein sequence conservation, stability, conformation, biophysical parameters, and protein-protein interactions.
  • Computational methods often rely on protein structure and evolutionary conservation to predict nsSNP function.
  • Analysis of I638V (rs5908) and A370T (rs11669576) revealed biophysical changes affecting protein stability and activity.

Conclusions:

  • Functional nsSNPs play a role in human health and disease, though their full impact requires further elucidation.
  • Targeted investigation of nsSNPs can yield valuable insights for rational drug design.
  • Understanding nsSNP consequences is key to developing precision medicines for genetic disorders.