Does anyone with PSP also have Essential t... - PSP Association

PSP Association

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Does anyone with PSP also have Essential thrombocytosis?

CateT profile image
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We have just been told that my mum has this and requires a chemotherapy drug. Essentially she has too many platelets in her blood and is at increased risk for bleeding and for blood clots. It is not a blood cancer but requires long term treatment. The cause of it is a genetic mutation and I am wondering if there could be a link with PSP.

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CateT
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dllera profile image
dllera

Hmm- very interesting - I have not heard of anyone with PSP having this - - do you know where the genenic mutation occurs? They have linked PSP to choromosome 17 and a couple of others - I'd have to go back and look because I can't remember which other ones but would be interesting to know.

CateT profile image
CateT

It is linked to a JAK2 mutation and when I put JAK2 and tauopathies in google I found a number of medical articles that I cannot make much sense of. But when I read things like the following:

Because glial tau accumulation has been reported in Alzheimer’s disease (Papasozomenos,

1989a,b; Nakano et al., 1992; Nishimura et al., 1995) and even in

normal aging as accumulation of significant numbers of thornshaped astrocytes (Schultz et al., 2004), our model could have

implications beyond traditionally defined glial tauopathies such

as progressive supranuclear palsy and corticobasal degeneration.

In summary, we report a Drosophila model of glial tauopathy

that recapitulates important features of the human disorders,

including formation of glial fibrillary tangles. Toxicity is mediated through reduced JAK/STAT signaling in glial cells and noncell-autonomous neuronal degeneration. Our model represents a

genetically tractable tool in which to continue to dissect the

mechanisms of glial tau toxicity. Furthermore, our work suggests

that preventing glial accumulation and expression of tau in human tauopathies may be a useful therapeutic strategy, particularly because we demonstrate a striking enhancement in toxicity

with expression of tau in both neurons and glia, as occurs in many

tauopathies.

It makes me think there may be a link....but it is probably because I am just picking out the words I recognise ;-)

Definition of JAK2:

The JAK2 gene provides instructions for making a protein that promotes the growth and division (proliferation) of cells. This protein is part of a signaling pathway called the JAK/STAT pathway, which transmits chemical signals from outside the cell to the cell's nucleus. The JAK2 protein is especially important for controlling the production of blood cells from hematopoietic stem cells. These stem cells are located within the bone marrow and have the potential to develop into red blood cells, white blood cells, and platelets.

This particular abstract is interesting too: ukpmc.ac.uk/articles/PMC307...

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