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Current Therapeutic Strategies of Xeroderma Pigmentosum
Mozammel Hossain1, Ashraful Hasan1, Mohammad Mahfuz Ali Khan Shawan1
1Department of Biochemistry and Molecular Biology, Jahangirnagar University, Dhaka, Bangladesh.
Abstract:
Xeroderma pigmentosum (XP) is an autosomal recessive genetic disease caused by a defect in the DNA repair system, exhibiting skin cancer on sun exposure. As it is an incurable disease, therapeutic strategies of this disease are critical. This review article takes an attempt to explore the current therapeutic advancements in XP. Different approaches including sun avoidance; surgical removal of cancerous lesions; laser and photodynamic therapy; use of retinoid, 5-fluorouracil, imiquimod, photolyase, and antioxidant; interferon therapy and gene therapy are chosen by doctors and patients to lessen the adverse effects of this disease. Among these options, sun avoidance, use of 5-fluorouracil and imiquimod, and interferon therapy are effective. However, some approaches including laser and photodynamic therapy, and the use of retinoids are effective against skin cancer having severe side effects. Furthermore, surgical removal of cancerous lesions and use of antioxidants are considered to be effective against this disease; however, efficacies of these are not experimentally determined. In addition, some approaches including oral vismodegib, immunotherapy, nicotinamide, acetohexamide, glimepiride-restricted diet are found to be effective to minimize the complications secondary to defects in the nucleotide excision repair (NER) system and also enhance the NER, which are under experimental level yet. Besides these, gene therapy, including the introduction of missing genes and genome edition, may be a promising approach to combat this disease, which is also not well established now. In the near future, these approaches may be effective tools to manage XP.
Insights
Xeroderma pigmentosum (XP) is a genetic disorder impacting DNA repair, leading to sun-induced skin cancer. Current treatments focus on managing symptoms and preventing complications, with ongoing research into novel therapies like gene editing.
Area of Science:
- Genetics
- Dermatology
- Oncology
Background:
- Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder characterized by defective DNA repair mechanisms.
- This defect significantly increases the risk of skin cancer upon sun exposure.
- XP is currently incurable, making therapeutic strategies crucial for managing its adverse effects.
Purpose of the Study:
- To review and explore current therapeutic advancements for Xeroderma pigmentosum (XP).
- To evaluate the efficacy and side effects of various treatment options for XP patients.
Main Methods:
- Literature review of existing therapeutic strategies for XP.
- Analysis of different treatment approaches including sun avoidance, surgical interventions, and pharmacological agents.
- Exploration of emerging therapies such as gene therapy and immunotherapies.
Main Results:
- Sun avoidance, 5-fluorouracil, imiquimod, and interferon therapy are identified as effective treatments.
- Laser therapy, photodynamic therapy, and retinoids show efficacy against skin cancer but with severe side effects.
- Emerging therapies like oral vismodegib, immunotherapy, and gene therapy show promise but require further experimental validation.
Conclusions:
- Current therapeutic strategies for XP focus on symptom management and complication prevention.
- While some treatments are effective, many have significant side effects or unproven efficacy.
- Gene therapy and other novel approaches represent promising future directions for XP management.
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