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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

Mutation, Gene Flow, and Genetic Drift

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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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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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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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Related Experiment Video

Updated: Jan 23, 2026

Flow Cytometry to Estimate Leukemia Stem Cells in Primary Acute Myeloid Leukemia and in Patient-derived-xenografts, at Diagnosis and Follow Up
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Acute Myeloid Leukemia Mutations: Therapeutic Implications.

Cristina Papayannidis1, Chiara Sartor2, Giovanni Marconi3

  • 1Istituto di Ematologia e Oncologia Medica "L. e A. Seràgnoli", S.Orsola-Malpighi Hospital, 40138 Bologna, Italy. cristina.papayannidis@gmail.com.

International Journal of Molecular Sciences
|June 6, 2019
PubMed
Summary

Acute Myeloid Leukemia (AML) treatments are evolving beyond stem cell transplants. Targeted therapies focusing on specific genetic mutations offer new hope for patients ineligible for traditional approaches.

Keywords:
FLT3IDH1-2acute myeloid leukemiamutationsresistance

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Area of Science:

  • Hematology
  • Oncology
  • Molecular Biology

Background:

  • Acute Myeloid Leukemia (AML) is a complex blood cancer with limited curative options for many patients, especially the elderly or those with comorbidities.
  • Allogeneic stem cell transplantation (HSCT) is the primary curative treatment but is not suitable for all patients.
  • Understanding AML pathogenesis has revealed key molecular mutations driving the disease.

Purpose of the Study:

  • To review the latest molecular alterations in Acute Myeloid Leukemia (AML).
  • To highlight targeted therapies and innovative molecules under investigation for AML treatment.
  • To focus on genomic mutations with approved or developing therapeutic compounds.

Main Methods:

  • Review of current scientific literature on AML pathogenesis and treatment.
  • Analysis of high-throughput techniques identifying recurrent molecular mutations.
  • Compilation of data on targeted therapies (e.g., FLT3, IDH1-2 inhibitors) and novel agents.

Main Results:

  • Identification of specific recurrent genomic mutations crucial to AML development and progression.
  • Progress in developing targeted therapies against these mutations, with some already in clinical use.
  • Promising early results for several novel therapeutic molecules currently in development.

Conclusions:

  • Targeted therapies based on molecular profiling are transforming AML treatment paradigms.
  • Continued research into novel agents and molecular targets is essential for improving patient outcomes.
  • Personalized medicine approaches are becoming increasingly vital in managing this heterogeneous disease.