Home Medizin Neuartiger genetischer Zusammenhang bei generalisierter pustulöser Psoriasis entdeckt

Neuartiger genetischer Zusammenhang bei generalisierter pustulöser Psoriasis entdeckt

von NFI Redaktion

Researchers at Nagoya University in Japan have identified previously unidentified gene variants associated with the development of generalized pustular psoriasis (GPP). Published in the Journal of the American Academy of Dermatology, their findings offer hope for improving diagnosis and treatment.

GPP is rare, but its impact is often severe. Individuals with GPP may experience recurrent episodes of disease characterized by multiple erythematous lesions and sterile pustules throughout the body, often accompanied by fever and chills. This can lead to emergency treatment and even death.

While researchers have reported on six genetic associations with GPP, there are still GPP patients who do not have variants in these genes. This suggests unknown genetic factors relating to the development of GPP.

To address this issue, a team led by Prof. Masashi Akiyama, Takenori Yoshikawa, and Dr. Takuya Takeichi from the Department of Dermatology at Nagoya University Graduate School of Medicine used next-generation sequencing to examine the genes of Japanese patients with GPP. They found higher frequencies of two MEFV gene variants, p.Arg202Gln and p.Ser503Cys, associated with GPP. Specifically, 21% of patients carried the p.Arg202Gln variant and 13% carried the p.Ser503Cys variant.

Pyrin, the product of MEFV, regulates inflammatory pathways. Certain Pyrin variants, however, induce excessive neutrophil migration into tissues, ultimately triggering excessive inflammation. This finding suggests a likely disease pathway.

The researchers believe that therapies targeting inflammation pathways associated with MEFV could be a promising treatment strategy for patients with these variants. According to Yoshikawa, their results suggest a new application of a commonly used medication for treating familial Mediterranean fever (FMF).

„Since these variants are associated with both FMF and GPP, treatments for FMF may also be effective in treating patients with MEFV-associated GPP.“

Takenori Yoshikawa, Nagoya University


Journal Reference:

Yoshikawa, T., et al. (2023) MEFV variants predispose to generalized pustular psoriasis. Journal of the American Academy of Dermatology. doi.org/10.1016/j.jaad.2023.10.070.

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