Trying to get info on JAK 2 mutant allele burden

[milw532]

please explain what JAK 2 mutant allele burden is. There was a recent post with a link and now I cannot find it. Please help me relocate it or if not--info would be appreciated. Thanks!

[mhos61]

Scroll down approximately 25 posts and you will see a post entitled Jak 2 Burden.

[Rachelthepotter]

This is a new link to a talk abt allele burd H.S. on another excellent patient MPN site. patientpower.info/video/wha...

Rachel

[Rachelthepotter]

How do I stop my iPad scrambling my posts with well intentioned but daft “corrections’ to my text? Allele burden became something else entirely. But you probably got the gist.

Allele burden is the proportion of wonky copies of the JAK 2 gene you have. Wild type is the name for the normal versions.

Keep learning.

[hunter5582]

JAK2 = Janus Kinase 2 gene. The JAK2 gene is comprised of a set of alleles. When some of these alleles become mutated, then you are JAK2+ - typically results in either ET or PV. The percentage of the alleles that are mutated = JAK2 Mutant Allele Burden. Speaking broadly, people with a JAK2 burden less than 50% will have a milder course of the MPN. There are a number of factors why this is so. JAK2 signaling drives hematopoiesis (thrombocytosis, leukocytosis, erythrocytosis). It is also thought to trigger thrombosis. Emerging research is focusing on the role JAK2 signaling play in increasing the production of inflammatory cytokines. The cytokines appear to be responsible for many of the secondary symptoms we all experience. Here is one reference about the JAK2 Mutant Allele burden. bloodjournal.org/content/13... . Here is a reference to the role of inflammatory cytokines in MPNs ncbi.nlm.nih.gov/pmc/articl... . There is a lot more out there on these topics. Takes a bit of effort to find the information - but knowledge is power and worth the effort. Hope this helps.