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Mutations01:39

Mutations

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Overview
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Mutations01:35

Mutations

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Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
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Viral Mutations00:36

Viral Mutations

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A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
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Mutation, Gene Flow, and Genetic Drift01:09

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In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
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Point and Frameshift Mutations01:30

Point and Frameshift Mutations

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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...
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Mutations in Microorganisms01:18

Mutations in Microorganisms

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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,...
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Data Mining: Applying the AD&FTD Mutation Database to Progranulin.

Marc Cruts1,2, Christine Van Broeckhoven3,4

  • 1Neurodegenerative Brain Diseases Group, Center for Molecular Neurology, VIB, University of Antwerp - CDE, Antwerp, Belgium.

Methods in Molecular Biology (Clifton, N.J.)
|June 30, 2018
PubMed
Summary
This summary is machine-generated.

The AD&FTD Mutation Database is a comprehensive resource detailing genetic variations linked to Alzheimer's disease (AD) and frontotemporal dementia (FTD). It offers curated data on 764 genetic variants and clinicogenetic information for 1646 dementia families.

Keywords:
Alzheimer’s diseaseDatabaseFrontotemporal dementiaGenetic variantsIn silico analysis

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Area of Science:

  • Neuroscience
  • Genetics
  • Bioinformatics

Background:

  • Monogenic forms of Alzheimer's disease (AD) and frontotemporal dementia (FTD) are linked to specific genetic variations.
  • A centralized, curated knowledge base is essential for understanding these genetic underpinnings.
  • Existing resources may lack comprehensive coverage of all known mutations and associated patient data.

Purpose of the Study:

  • To establish and maintain the AD&FTD Mutation Database as a comprehensive resource for genetic variations in AD and FTD.
  • To curate and present detailed information on genetic variants and associated demographic/clinicogenetic data.
  • To facilitate research by providing accessible, referenced data and analysis tools.

Main Methods:

  • Systematic collection and curation of genetic variant data from scientific literature.
  • Inclusion of demographic and clinicogenetic information from affected families.
  • Development of a web-based platform for data access and visualization.
  • Integration with human genome browsers for advanced analysis.

Main Results:

  • The database contains curated information on 764 genetic variants in genes such as APP, PSEN1, PSEN2 (for AD) and GRN, C9orf72, TBK1, MAPT, VCP, CHMP2B, TARDBP, and FUS (for FTD).
  • Data from 1646 dementia families associated with these mutations are stored, including demographic and clinicogenetic details.
  • The granulin (GRN) gene shows the highest mutation diversity in FTD (34%), with C9orf72 associated with the most FTD families.
  • Summary reports and graphical representations are available, alongside tools for custom analyses via genome browsers.

Conclusions:

  • The AD&FTD Mutation Database serves as a vital, up-to-date resource for researchers studying the genetic basis of AD and FTD.
  • The database consolidates critical genetic and clinical information, aiding in the understanding of disease mechanisms and patient stratification.
  • Availability of curated data and analysis tools supports further research into monogenic dementia forms and potential therapeutic targets.