Genetic researchers at Nagoya University, Japan, have delved into the genetic underpinning of a rare skin condition affecting children that is unusually common in Japan.
, the team finds a potential therapeutic target for the disorder with artificial antisense oligonucleotides.that can cause heightened sensitivity to sunlight and an increased risk of skin tumors due to a deficiency in the DNA repair system responsible for processing sunlight-induced photolesions.
The clinical manifestations of XP vary depending on the affected genes and types of mutations. While every form of XP exhibits some of the pathologies, XP-F patients can have most or all of the disease manifestations at once. Partly because XP is such a rare disorder, it remains under-studied, and treatment options are limited. There is a need for improved understanding, diagnosis, and potential therapeutic targets for XP, especially for the rarest variants like XP-F.
Both mutations result in reduced ERCC4/XPF gene expression, leading to a significant reduction in XPF protein expression and DNA repair deficiency in patients' cells.
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