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Updated: Dec 31, 2025

Bone Marrow Transplantation Procedures in Mice to Study Clonal Hematopoiesis
Published on: May 26, 2021
Clonal hematopoiesis, aging, and cardiovascular diseases
Evangelia Pardali1, Stefanie Dimmeler2, Andreas M Zeiher3
1Department of Medicine, Hematology/Oncology, Goethe University Hospital, Frankfurt, Germany.
Insights
Clonal hematopoiesis (CH), caused by mutations in blood stem cells, is an emerging cardiovascular disease risk factor. This review explores CH's role in atherosclerosis and cardiovascular disease progression.
Area of Science:
- Cardiology
- Hematology
- Genetics
Background:
- Cardiovascular diseases (CVDs) are the leading global cause of death, driven by factors including atherosclerosis.
- Atherosclerosis, an inflammatory condition, is linked to aging and influenced by genetic and environmental factors.
- Clonal hematopoiesis (CH), characterized by somatic mutations in hematopoietic stem cells, is an emerging CVD risk factor.
Purpose of the Study:
- To review the current understanding of CH's contribution to cardiovascular diseases.
- To discuss CH's role in atherosclerosis, cardiac dysfunction, and CVD progression.
- To explore CH's implications for CVD risk assessment and novel therapeutic strategies.
Main Methods:
- Review of experimental evidence and existing literature on CH and cardiovascular diseases.
- Analysis of the association between CH, somatic mutations, and atherosclerosis.
- Synthesis of data on CH prevalence, age-dependency, and its link to myeloid neoplasms.
Main Results:
- CH, driven by mutations in genes often associated with myeloid neoplasms, significantly contributes to atherosclerosis and cardiac dysfunction.
- CH is age-dependent, affecting 10%-20% of individuals over 70, and not always accompanied by hematologic abnormalities.
- A growing body of evidence links myeloid leukemia-driver mutations to CVD progression.
Conclusions:
- CH represents a novel and significant risk factor for cardiovascular diseases.
- Understanding CH's mechanisms is crucial for improving CVD risk stratification and developing targeted therapies.
- Further research into CH is warranted to fully elucidate its impact on cardiovascular health and disease management.
Abstract:
Cardiovascular diseases (CVDs) remain the leading cause of death worldwide. Many studies have provided evidence that both genetic and environmental factors induce atherosclerosis, leading thus to cardiovascular complications. Atherosclerosis is an inflammatory disease, and aging is strongly associated with the development of atherosclerosis. Recent experimental evidence suggests that clonal hematopoiesis (CH) is an emerging cardiovascular risk factor that contributes to the development of atherosclerosis and cardiac dysfunction and exacerbates cardiovascular diseases. CH is caused by somatic mutations in recurrent genes in hematopoietic stem cells, leading to the clonal expansion of mutated blood cell clones. Many of the mutated genes are known in the context of myeloid neoplasms. However, only some individuals carrying CH mutations develop hematologic abnormalities. CH is clearly age dependent and is not rare: at least 10%-20% of people >70 years old carry CH. The newly discovered association between myeloid leukemia-driver mutations and the progression of CVDs has raised medical interest. In this review, we summarize the current view on the contribution of CH in different cardiovascular diseases, CVD risk assessment, patient stratification, and the development of novel therapeutic strategies.
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