Wednesday, April 15, 2015

The PJS gene and multiple sclerosis

The PJS gene and multiple sclerosis

Please don’t worry about getting multiple sclerosis (MS) because you have PJS!

Please read on if you're interested in the research linking the PJS gene (STK11) to MS.

Dear PJS friends,

This 2015 medical journal article is about a particular family in the Chicago region whose female members were affected by both PJS and multiple sclerosis. (1) The authors tested the family to determine their mutation on the PJS gene (STK11). Then, they tested over 1400 people with multiple sclerosis to determine whether there’s a link between STK11 mutations and multiple sclerosis.

They found, “Screening of DNA samples from individuals with MS and healthy controls revealed that the STK11 genetic variation was nearly twice as prevalent among women with relapsing remitting MS compared to women without the disease. Although the genetic variant also appeared to be more frequent in women with primary progressive MS than healthy controls, the difference was not statistically significant. There was no significant difference in the prevalence of the STK11 genetic variation between both male and female MS patients and healthy controls overall.” (2)

Please don’t worry about getting multiple sclerosis (MS) because you have PJS!

But if you or family members have or have had a MS diagnosis and would like more information or to participate in their research, I strongly encourage you to contact the article’s author, Douglas L. Feinstein at

Stephanie Sugars

(1) A single-nucleotide polymorphism in serine-threonine kinase 11, the gene encoding liver kinase B1, is a risk factor for multiple sclerosis.
Boullerne AI, Skias D, Hartman EM, Testai FD, Kalinin S, Polak PE, Feinstein DL. ASN Neuro. 2015 Feb 18;7(1). pii: 1759091415568914. doi: 10.1177/1759091415568914. Print
2015 Jan-Feb. PubMed PMID: 25694554; PubMed Central PMCID: PMC4342367.
free full text article:

(2) In plainer English

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