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Related Concept Videos

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

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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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Related Experiment Video

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Author Spotlight: A Focus on Standardized Salivary Gland Ultrasound Protocol in Connective Tissue Disease Research
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Kit Mutations: New Insights and Diagnostic Value.

Lorenzo Falchi1, Srdan Verstovsek2

  • 1Division of Hematology/Oncology, Columbia University Medical Center, 177 Fort Washington Avenue, MHB 6GN-435, New York, NY 10032, USA.

Immunology and Allergy Clinics of North America
|July 16, 2018
PubMed
Summary

Mastocytosis is a diverse mast cell disorder driven by KIT gene mutations, most commonly D816V. Testing for this mutation aids in diagnosing systemic mastocytosis and developing targeted therapies.

Keywords:
AvapritinibCutaneous mastocytosisImatinibKIT D816VKIT mutationsMidostaurinSystemic mastocytosis

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Area of Science:

  • Hematology
  • Oncology
  • Genetics

Background:

  • Mastocytosis is a World Health Organization-defined clonal mast cell disorder with significant heterogeneity.
  • A KIT gene mutation, predominantly D816V, is identified in nearly all cases and considered a key driver lesion.
  • Understanding the genetic basis of mastocytosis is crucial for diagnosis and treatment.

Purpose of the Study:

  • To summarize the role of KIT mutations in mastocytosis.
  • To highlight diagnostic methods for KIT D816V.
  • To review KIT-targeted therapies for mastocytosis.

Main Methods:

  • Review of existing literature on mastocytosis, KIT mutations, and targeted therapies.
  • Analysis of diagnostic techniques, including allele-specific oligonucleotide polymerase chain reaction.
  • Examination of approved and investigational KIT-targeted drugs.

Main Results:

  • The KIT D816V mutation is a near-universal finding in mastocytosis and a critical pathogenetic factor.
  • Peripheral blood allele-specific oligonucleotide polymerase chain reaction is a reliable screening tool for KIT D816V in suspected systemic mastocytosis.
  • Several KIT-targeted agents, including imatinib, midostaurin, and avapritinib, show therapeutic potential.

Conclusions:

  • KIT mutations are central to mastocytosis pathobiology.
  • Accurate detection of KIT D816V mutation is essential for diagnosis and guiding therapy.
  • Targeted therapies offer promising treatment options for patients with mastocytosis.