Mutant gene found in psoriasis patients
MedWire News: Scientists have pinpointed a gene that is mutated in some people with the skin condition psoriasis, a finding that could lead to new, more effective treatments.
The research team believes that the gene, which is called "CARD14," can become mutated in response to injury or infection, leading to the development of "plaque psoriasis" - the most common form of the disease.
Psoriasis is a chronic skin condition characterized by redness, flaking, and inflammation. There are various forms of the condition - such as plaque psoriasis, pustular psoriasis, and psoriatic arthritis - but all are caused by an overactive immune system.
For decades, scientists have tried to find genes that are mutated in people with psoriasis, but without success.
Now, in two separate pieces of research, rare mutations in the CARD14 gene have been discovered and shown to be directly linked with the condition.
In the first study, Dr Anne Bowcock (Washington University School of Medicine, St. Louis, Missouri, USA) and colleagues took blood samples from members of large families with a disproportionately high frequency of plaque psoriasis.
The researchers found that family members with plaque psoriasis had a rare mutation in the CARD14 gene, and in a subsequent analysis detected the same mutation in another family affected by psoriatic arthritis.
In the second study, which was also led by Dr Bowcock, the researchers found a mutation in CARD14 in a 3-year-old girl with a severe form of pustular psoriasis.
Taken together, the new information implicates mutations in CARD14 as a direct cause of various forms of psoriasis, say the authors. They suggest that the gene may become mutated following a "trigger" such as infection or skin injury, leading to the development of psoriasis.
In a statement to the press, Dr Bowcock said: "We have searched for almost two decades to find a single gene linked to plaque psoriasis. "Now, we have a much clearer picture of what is happening… With all kinds of new therapeutic targets that lie within the CARD14 pathway, the field is wide open."
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By Joanna Lyford