Synthetic rescue of Xeroderma Pigmentosum C phenotype via PIK3C3 downregulation.

ABSTRACT: Xeroderma Pigmentosum C is a dermal hereditary disease caused by a mutation in the DNA damage recognition protein XPC that belongs to the Nucleotide excision repair pathway. XPC patients display heightened sensitivity to light and an inability to mend DNA damage caused by UV radiation, resulting in the accumulation of lesions that can transform into mutations and eventually lead to cancer. To address this issue, we conducted a screening of siRNAs targeting human kinases, given their involvement in various DNA repair pathways, aiming to restore normal cellular behavior. We introduced this siRNA library into both normal and XPC patient-derived fibroblasts, followed by UVB exposure to induce DNA damage. We assessed the reversal of the XPC phenotype by measuring reduced photosensitivity and en

SUBMITTER: Kobaisi F 

PROVIDER: S-EPMC11577109 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature