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Hematopoietic Stem Cell Mutations May Lead to Increased Risk for Leukemia and Heart Disease

Feb 23, 2021 10:03:00 AM / by Stacy Matthews Branch, DVM, PhD

Doctor checking patient's heartbeat by stethoscope at hospital_AdobeStock_218445559-1Two teams of scientists have discovered a set of inherited gene variants that can increase the risk of developing mutations in HSC’s in their lifetimes. The mutations can lead to two different age-related disorders: clonal hematopoiesis of indeterminate potential and myeloproliferative neoplasms. 

Advancing age has been associated with an increased risk of various chronic diseases and conditions. Mutations in hematopoietic stem cells increase as people age and may be linked to an increased risk of leukemia and cardiovascular disease. Somatic mutations in hematopoietic stem cells are connected to the development of myeloproliferative neoplasms (MPN) characterized by an excess of red blood cells, leukocytes, and platelets that leads to an increased susceptibility to develop leukemia.

The results of a large-scale, genome-wide association study, including thousands of cases, uncovered 17 MPN risk variants. The risk of MPN is associated with an increase in hematopoietic stem cell self-renewal. Even before MPN develops, people with the discovered risk variants have more hematopoietic stem cell numbers and turnover than people without the variants. The risk variants are believed to increase the population of hematopoietic stem cells. The increased numbers of stem cells are linked to an elevated likelihood of one of those cells, eventually acquiring a mutation leading to MPN.

The long-standing risk factors associated with cardiovascular disease are not entirely predictive of disease development. Epidemiological studies have suggested an association of the age-related cardiovascular disease with an increase in the frequency of somatic mutations in hematopoietic stem cells. Clonal hematopoiesis of indeterminate potential (CHIP) is characterized by an excess of hematopoietic stem cells and increases a person’s risk of developing hematological cancer and coronary heart diseases.

A study analyzing whole-genome sequences from over 4,000 people with CHIP uncovered hematopoietic stem cell mutations associated with the condition. One variant on the TET2 gene decreased TET2 protein levels. Mice with the TET2 gene removed had increased self-renewal of hematopoietic stem cells. The knockdown of TET2 expression of human hematopoietic stem cells in vitro led to the more rapid growth of the cell colonies. A better understanding of MPN and CHIP development mechanisms can help determine how to prevent and treat these diseases and understand the possible association with other age-related disease states and conditions. 

If you are looking for high-quality products for your medical research, contact HemaCare. We offer top-grade immune cells, stem cells, plasma, platelets, and more. 


Studies reveal mutations that boost blood stem cell growth and increase leukemia and heart disease risk. (2020). Retrieved 4 November 2020, from

Topics: Cancer, Cardiovascular Disease, Stem Cells

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