Gene discovery offers hope for psoriasis

[Fred]

This study was passed to me by afternoonfix

Scientists from The Australian National University (ANU) have discovered a gene mutation is responsible for causing psoriasis.

Quote:

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According to ANU researcher Dr Chelisa Cardinez, if two copies of this mutated gene (known as IKBKB) are present, patients with psoriasis may go on to develop psoriatic arthritis, leaving them with joint pain, stiffness and swelling. Thanks to the world-first discovery from ANU, scientists now know what causes the progression from a skin-only disease to a skin and joint disease.

It’s hoped the findings will lead to improved diagnosis and treatment for patients with psoriasis and psoriatic arthritis – conditions that patients say carry stigma in the community.

“Using a mouse model, we identified that this mutation led to an abnormal function in a group of immune cells known as regulatory T cells,” Dr Cardinez, from the ANU John Curtin School of Medical Research (JCSMR), said.

“These cells are normally considered gatekeepers of the immune system. However, we found that this mutation alters the function of these cells, causing them to contribute to inflammation and promote the onset of disease.”

Dr Cardinez said: “Studies have shown that delays in psoriatic arthritis diagnosis is linked to worse clinical outcomes for patients. Therefore, earlier detection and treatment of these immune diseases is key to improving health outcomes.

"By developing a better understanding of the IKBKB gene and the role it plays in promoting the onset of these diseases, it could bring us a step closer to one day finding a cure.

Source: anu.edu.au

*Funding unknown.

[Caroline]

Certainly interesting.
it could offer hope to the psoriasis patients in order to help preventing Psoriatic Arthritis.

the interesting thing is now… why are these IKBKB genes mutated?
And what is triggering the change of this gene?

For now we only have a better possibility to diagnose a coming Psoriatic Arthritis in the future, not more.

We still have no diagnose tool, but we can easier look for the likability of Psoriatic Arthritis. Of course depending on the costs of the genetic research.

(Found this article because I was reading in Flipboard)

[Forest Walker]

I hope this leads to a blood test so a person can know if they're more likely to get PsA.  Then their treatments could be better.  Does it seem that some people have trouble getting PsA diagnosed because some doctors can't distinguish between this form of arthritis and others?

[Caroline]

I hope this leads to a blood test so a person can know if they're more likely to get PsA.  Then their treatments could be better.  Does it seem that some people have trouble getting PsA diagnosed because some doctors can't distinguish between this form of arthritis and others?

There are several researchers over here in the Netherlands, who are trying to get an early detection mechanism. In Amsterdam they are researching the early onset of inflammation of the tendons and possible very early medication and in Rotterdam they have the iProlepsis international project to detect the early arrival of arthritis by measuring the moving pattern of psoriasis patients.

[Kat]

I hope this leads to a blood test so a person can know if they're more likely to get PsA.  Then their treatments could be better.  Does it seem that some people have trouble getting PsA diagnosed because some doctors can't distinguish between this form of arthritis and others?

I have been confused over how they diagnose psoriatic arthritis here for awhile now. I have osteoarthritis in my knees and it was easy to understand the diagnosis as the "cushion" had worn and the bone scrapes bone. It's a wear and tear type of arthritis. I do not have rheumatoid arthritis, which they do a blood test to determine (if I recall correctly)

I did get a diagnosis on my ankles as having psoriatic arthritis, but I don't really know what it was based on. I had been told after exrays once that my ankles did not have osteoarthritis so I wondered if it's just from having psoriasis and they "assume" that's what is going on.

[Caroline]

I hope this leads to a blood test so a person can know if they're more likely to get PsA.  Then their treatments could be better.  Does it seem that some people have trouble getting PsA diagnosed because some doctors can't distinguish between this form of arthritis and others?

I have been confused over how they diagnose psoriatic arthritis here for awhile now.  I have osteoarthritis in my knees and it was easy to understand the diagnosis as the "cushion" had worn and the bone scrapes bone.  It's a wear and tear type of arthritis.  I do not have rheumatoid arthritis, which they do a blood test to determine (if I recall correctly) 

I did get a diagnosis on my ankles as having psoriatic arthritis, but I don't really know what it was based on. I had been told after exrays once that my ankles did not have osteoarthritis so I wondered if it's just from having psoriasis and they "assume" that's what is going on.

Correct. RA can be determined by means of a test.

Psoriatic Arthritis is very hard to diagnose.
But it is kind of a logical assumption that it is PsA when you already have psoriasis. But….. that indeed is an assumption.
It probably is PsA if it nicely reacts to Psoriasis treatments also.