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Updated: Oct 3, 2025

Bone Marrow Transplantation Procedures in Mice to Study Clonal Hematopoiesis
Published on: May 26, 2021
Clonal hematopoiesis and cardiovascular diseases: role of JAK2V617F
Tomofumi Misaka1, Yusuke Kimishima1, Tetsuro Yokokawa1
1Department of Cardiovascular Medicine, Fukushima Medical University, Fukushima, Japan.
Insights
Clonal hematopoiesis, particularly with the JAK2V617F mutation, is a significant risk factor for cardiovascular diseases. Targeting this mutation offers a potential new avenue for precision medicine in treating heart conditions.
Area of Science:
- Hematology
- Cardiovascular Medicine
- Genetics
Background:
- Bone marrow cells are implicated in cardiovascular disease development.
- Clonal hematopoiesis, the expansion of mutated stem cells, is common with aging.
- Clonal hematopoiesis is increasingly recognized as a cardiovascular disease risk factor.
Purpose of the Study:
- To review JAK2V617F-mediated clonal hematopoiesis.
- To explore its link to cardiovascular disease pathogenesis and mechanisms.
- To highlight its potential as a therapeutic target.
Main Methods:
- Review of genetic analyses and prevalence studies.
- Examination of biological impacts of JAK2V617F mutations.
- Analysis of mechanistic links between clonal hematopoiesis and cardiovascular diseases.
Main Results:
- JAK2V617F is a key mutation in clonal hematopoiesis and myeloproliferative neoplasms.
- Hematopoietic clones with JAK2V617F are causally linked to cardiovascular disease.
- Clonal hematopoiesis is a significant, independent risk factor for cardiovascular diseases.
Conclusions:
- JAK2V617F-mediated clonal hematopoiesis is a critical factor in cardiovascular disease.
- Understanding these mechanisms can inform cardiovascular disease treatment.
- Detecting JAK2V617F may enable precision medicine approaches for cardiovascular conditions.
Abstract:
Bone marrow-derived hematopoietic and immune cells play important roles in the onset and progression of cardiovascular diseases. Recent genetic analyses have discovered that clonal expansion of bone marrow hematopoietic stem/progenitor cells carrying somatic gene mutations is common and is increasing with age in healthy individuals who do not show any hematologic disorders, termed as clonal hematopoiesis. It is emergingly recognized that clonal hematopoiesis is a significant risk factor for cardiovascular diseases rather than a cumulative incidence risk of blood cancers. JAK2V617F, a gain-of-function mutation, has been identified as one of the most important mutations in clonal hematopoiesis as well as the most frequent driver mutation in myeloproliferative neoplasms. Hematopoietic cell clones harboring JAK2V617F are causally associated with the pathogenesis of cardiovascular diseases. Here, we will review the key of JAK2V617F-mediated clonal hematopoiesis including identification, prevalence, and biological impacts, linking to cardiovascular diseases and the related mechanisms. Clonal hematopoiesis with JAK2V617F may be a novel therapeutic target for cardiovascular diseases, connected to precision medicines by detecting its presence.
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