Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

A de novo LDLR mutation in severe familial hypercholesterolemia: case report, functional characterization, and a personalized gene correction strategy exploration.

Frontiers in cardiovascular medicine·2026
Same author

Correction: Prevalence, mutation distribution, and economic burden of thalassemia in China: a systematic review and regional analysis.

Archives of public health = Archives belges de sante publique·2026
Same author

Identification of lipid metabolism-related biomarkers in familial hypercholesterolemia via integrated bioinformatics and machine learning approaches.

Journal of cardiothoracic surgery·2026
Same author

Molecular Basis Underlying Changes of Brain Entropy and Couplings in Late-life Depression.

Current neuropharmacology·2026
Same author

Comparative performance of the patient-generated subjective global assessment, European Society for Clinical Nutrition and Metabolism criteria, and Global Leadership Initiative on Malnutrition criteria in patients with colorectal cancer: a multicenter study utilizing Bayesian inference.

Frontiers in nutrition·2026
Same author

Exploring the optimal follow-up time for resectable colorectal cancer patients: a multicenter, five-year longitudinal cohort study.

Scientific reports·2026

Related Experiment Video

Updated: May 5, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

26.1K

Acute myeloid leukemia with DNMT3A mutations.

Yunlong Li1, Baosheng Zhu

  • 1Medical Faculty, Affiliated Hospital of Kunming University of Science and Technology, Kunming University of Science and Technology , Kunming, Yunnan , China.

Leukemia & Lymphoma
|November 29, 2013
PubMed
Summary

Mutations in the DNA methyltransferase 3 alpha (DNMT3A) gene are common in acute myeloid leukemia (AML). These genetic alterations disrupt normal epigenetic function and are linked to patient outcomes.

Keywords:
Acute myeloid leukemia (AML)DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A)epigenetic modificationsomatic mutation

More Related Videos

Intracellular Phosphoflow Cytometry of Acute Myeloid Leukemia Patient-Derived Xenotransplants
07:38

Intracellular Phosphoflow Cytometry of Acute Myeloid Leukemia Patient-Derived Xenotransplants

Published on: June 6, 2025

959
Use of Hematopoietic Stem Cell Transplantation to Assess the Origin of Myelodysplastic Syndrome
06:39

Use of Hematopoietic Stem Cell Transplantation to Assess the Origin of Myelodysplastic Syndrome

Published on: October 3, 2018

9.0K

Related Experiment Videos

Last Updated: May 5, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

26.1K
Intracellular Phosphoflow Cytometry of Acute Myeloid Leukemia Patient-Derived Xenotransplants
07:38

Intracellular Phosphoflow Cytometry of Acute Myeloid Leukemia Patient-Derived Xenotransplants

Published on: June 6, 2025

959
Use of Hematopoietic Stem Cell Transplantation to Assess the Origin of Myelodysplastic Syndrome
06:39

Use of Hematopoietic Stem Cell Transplantation to Assess the Origin of Myelodysplastic Syndrome

Published on: October 3, 2018

9.0K

Area of Science:

  • Hematology
  • Molecular Biology
  • Cancer Genetics

Background:

  • Acute myeloid leukemia (AML) is a blood cancer marked by abnormal white blood cell proliferation and often hematopoietic insufficiency.
  • AML is a complex disease with diverse genetic and epigenetic alterations, including cytogenetic aberrations and gene expression changes.
  • DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A) plays a crucial role in epigenetic regulation during development and disease.

Purpose of the Study:

  • To investigate the role and clinical significance of DNMT3A mutations in AML.
  • To explore the association between DNMT3A mutations and various clinical and biological features of AML patients.

Main Methods:

  • Analysis of DNMT3A gene mutations in AML patient cohorts.
  • Correlation of mutation status with cytogenetics, age, white blood cell count, prognosis, and chemotherapy response.
  • Examination of the impact of mutations on DNMT3A function and epigenetic modification.

Main Results:

  • Recurrent heterozygous somatic mutations in DNMT3A are frequently identified in AML, with the R882 codon being a hotspot.
  • The prevalence of DNMT3A mutations varies geographically but is consistently associated with specific clinical parameters.
  • These mutations disrupt the normal function of DNMT3A, leading to aberrant epigenetic modifications.

Conclusions:

  • Mutations in the DNMT3A gene represent a distinct molecular subclass of AML.
  • DNMT3A mutations have significant biological and clinical implications in AML pathogenesis.
  • Further research is necessary to fully understand the molecular mechanisms and functional consequences of DNMT3A mutations in leukemogenesis.