The JAK2 gene is a protein-coding gene of the Janus kinase family. It plays a role in cellular signaling. Evidence notes connections between this gene and some medical conditions.
Variations in this gene may cause the body to produce too many blood cells. Evidence suggests a link between alterations in the JAK2 gene and some types of blood conditions.
This article will provide an overview of the JAK2 gene, including its functions and related medical conditions.
According to a 2014 article, the JAK2 gene instructs cells to make the JAK2 protein. This protein helps control cell growth and division. Specifically, JAK2 proteins help control the activation and production of hematopoietic stem cells.
Dysregulation of the JAK-STAT pathway can result in immune disorders. The
The following are the most common functions of the JAK2 gene:
- regulating the production of blood cells
- promoting cellular processes, including cell growth, development, differentiation, and modifications
- mediating essential signaling events in immunity
- acting as a diagnostic biomarker for most myeloproliferative neoplasms (MPNs), which are rare disorders of the bone marrow
Evidence notes an association between the expression of the JAK2 gene and some blood conditions. For example, MPNs are a group of hematopoietic stem cell conditions that arise due to an overproduction of mature blood cells.
In primary myelofibrosis (PMF), JAK2 gene variations replace typical bone marrow cells with scar tissue. This alteration affects
These JAK2 variations lead to the overproduction of atypical megakaryocytes that stimulate other cells to release collagen in the bone marrow. This causes scar tissue to form in a process called fibrosis. Due to this fibrosis, the bone marrow cannot produce enough typical blood cells, leading to symptoms of PMF.
Polycythemia vera (PV) occurs when JAK2 overstimulates the production of red blood cells, causing an excess in the circulatory system. About
Having extra cells in the bloodstream increases the risk of atypical blood clots. In addition, the thicker blood flows more slowly through the vessels, reducing the amount of oxygen in body tissues.
In around 50% of people with essential thrombocythemia (ET), the JAK2 V617F alteration results in the body replacing the amino acid valine with phenylalanine. Switching these amino acids results in the continual activation and production of the JAK2 protein, leading to an overproduction of megakaryocytes.
Since platelets form from megakaryocytes, an increased number of platelets may result in more blood clots.
According to a
Additional research from 2015 that analyzed JAK2 alteration in those with BCS suggests that 20% had latent MPNs. BCS occurs when a blood clot blocks the hepatic veins. This blockage can cause blood to flow back to the liver.
Many clinical trials are focusing on trying to manipulate the JAK2 gene and enzyme to find a better treatment for many related conditions the protein causes.
These suggest that therapeutic approaches targeting the JAK2 signaling pathways
The JAK2 gene is a protein-coding gene of the Janus kinase family. It initiates several cellular signaling processes, including cell division, immunity, and tumor formation.
Evidence notes that problems with this gene can result in the body producing too many blood cells. Medical experts have found links between the JAK2 gene and some blood conditions, including myelofibrosis, polycythemia vera, and thrombocythemia.