NPF-backed research helps ID possible treatment for pustular psoriasis

| Melissa Leavitt

Mutations in a gene that helps drive immune response may lead to pustular psoriasis, according to a new study funded by the National Psoriasis Foundation (NPF).

Researchers found that some patients with pustular psoriasis have mutations on a specific gene, called AP1S3. This finding may help researchers identify better treatments for this difficult-to-treat form of psoriasis.

The study, which appears in the May issue of the American Journal of Human Genetics, proposes that AP1S3 mutations could alter the immune response by increasing inflammation.

"It is not such a stretch of the imagination to think that if you have something wrong with that gene, there will be something wrong with your inflammatory responses" said Francesca Capon, the lead author of the study. Capon was awarded a $50,000 NPF Discovery grant in 2012 to pursue this work.

Support from the NPF enabled researchers to use gene sequencing technology to study the DNA of nine individuals with pustular psoriasis. After narrowing their focus to AP1S3, they studied the gene in 100 other patients, which, Capon noted, is a significant number for such a rare disease. They found gene mutations in approximately 6 percent of patients.

Another gene that carries a risk for pustular psoriasis

AP1S3 is the second gene the research team, based at King's College London, has found that strongly predisposes someone to pustular psoriasis, Capon said.

Previously, they linked mutations on another gene, called IL36RN, to pustular psoriasis. This gene helps regulate inflammation by suppressing inflammatory cytokines such as interleukin-1(IL-1), Capon said. When a person has a mutation on this gene, his or her body produces more IL-1.

Her research team is currently studying whether IL-1 may play a role in the AP1S3 mutation as well. If so, these patients may be good candidates for drugs such as Kineret (anakinra), which specifically target this cytokine.

The team is also working to recruit more patients into their genetic studies, in the hopes of identifying other genes involved in pustular psoriasis. Anyone interested in participating in the study can contact Capon at Francesca.capon@kcl.ac.uk.


Driving discovery, creating community

For more than 50 years, we’ve been driving efforts to cure psoriatic disease and improve the lives of those affected. But there’s still plenty to do! Learn how you can help our advocacy team shape the laws and policies that affect people with psoriasis and psoriatic arthritis – in your state and across the country. Help us raise funds to support research by joining Team NPF, where you can walk, run, cycle, play bingo or create your own fundraising event. If you or someone you love needs free, personalized support for living a healthier life with psoriatic disease, contact our Patient Navigation Center. And keep the National Psoriasis Foundation going strong by making a donation today. Together, we will find a cure.

Recent Advance Posts

Andrew Blauvelt, M.D., MBA, sheds light on the importance of clinical trials...
With help from his old bike and a biologic, Barry Bonner overcomes PsA and...
Rheumatologists and dermatologists join forces to defeat a common enemy.
Psoriasis updates from the 76th annual meeting of the American Academy of...
Culinary enthusiasts offer grade-A tips for taking the aches and pains out of...
For some psoriasis patients, getting the right diagnosis isn’t always so black...
NPF launches a clearinghouse for clinical trial info, including how to find one...
bullhorn
Clinical trial data show drug may help achieve clear skin.
Cyndi Lauper describes her treatment journey from diagnosis to clear skin.