CLINUVEL expands DNA Repair Program - Seite 2

ABOUT XERODERMA PIGMENTOSUM

XP is a group of eight rare disorders causing extreme UV sensitivity leading to skin cancers, defects in development and neural disease. Compared to the general population, XP patients have been shown to have a 1,000 to 10,000-fold increased risk of developing skin cancer(s).

XP-C results from a defect in one of the genes (chromosome 3p25.1) responsible for replicating proteins involved in a DNA repair process known as nucleotide excision repair (NER). Inefficient NER causes the accumulation and replication of UV-induced DNA lesions (photoproducts) in skin, leading to aggressive and recurrent skin cancers. Due to the frequency and spread of skin cancers during adulthood, XP-C patients have a median survival of 30 years. A small subset of XP-C patients develop neurological disorders, leading to developmental delay and sensory loss.

XP-V is caused by a defect of the POLH gene (chromosome 6p21.1-6p12) causing a disturbance in DNA translesion synthesis of UV-induced pyrimidine dimers (photoproducts). Pyrimidine dimers are molecular lesions formed within the DNA strands. The disease is autosomal recessive in nature (the patient carrying two copies of the affected gene). XP-V patients typically develop skin cancer(s) during late adolescence and adulthood. In this variant, patients have a dysfunction or malfunction of polymerase (pol)eta, an enzyme required to ensure DNA translesion synthesis of skin cells, a process required after sun exposures and sunburns.

Further resources – DNA Damage and Repair

CLINUVEL has published an in-depth video on DNA damage and repair and the eight XP complementation groups. For more details see: https://www.youtube.com/watch?v=9kZgZ0_Ip-M.

CLINUVEL’s Scientific Communiqué Series provides an extensive overview of DNA damage and repair, with Communiqué VIII focused on DNA Repair Mechanisms and Communiqué IX looking at the role of the Melanocortin-1 Receptor (MC1R) in DNA Repair.

About CLINUVEL PHARMACEUTICALS LIMITED

CLINUVEL PHARMACEUTICALS LTD (ASX: CUV; NASDAQ INTERNATIONAL DESIGNATION ADR: CLVLY; XETRA-DAX: UR9) is a global and diversified biopharmaceutical company focused on developing and commercialising treatments for patients with genetic, metabolic, and life-threatening disorders, as well as healthcare solutions for the general population. As pioneers in photomedicine and understanding the interaction of light and human biology, CLINUVEL’s research and development has led to innovative treatments for patient populations with a clinical need for systemic photoprotection, DNA repair and acute or life-threatening conditions. These patient groups range in size from 5,000 to 45 million worldwide. CLINUVEL’s lead compound, SCENESSE (afamelanotide 16mg), was approved by the European Commission in 2014, the US Food and Drug Administration in 2019 and the Australian Therapeutic Goods Administration in 2020 for the prevention of phototoxicity (anaphylactoid reactions and burns) in adult patients with erythropoietic protoporphyria (EPP). More information on EPP can be found at http://www.epp.care. Headquartered in Melbourne, Australia, CLINUVEL has operations in Europe, Singapore and the USA. For more information please go to http://www.clinuvel.com.