Publikation

Xeroderma pigmentosum: overview of pharmacology and novel therapeutic strategies for neurological symptoms.

Wissenschaftlicher Artikel/Review - 23.01.2019

Bereiche
PubMed
DOI
Kontakt

Zitation
Abeti R, Zeitlberger A, Peelo C, Fassihi H, Sarkany R, Lehmann A, Giunti P. Xeroderma pigmentosum: overview of pharmacology and novel therapeutic strategies for neurological symptoms. Br J Pharmacol 2019; 176:4293-4301.
Art
Wissenschaftlicher Artikel/Review (Englisch)
Zeitschrift
Br J Pharmacol 2019; 176
Veröffentlichungsdatum
23.01.2019
eISSN (Online)
1476-5381
Seiten
4293-4301
Kurzbeschreibung/Zielsetzung

Xeroderma pigmentosum (XP) encompasses a group of rare diseases characterized in most cases by malfunction of nucleotide excision repair (NER), which results in an increased sensitivity to UV radiation in affected individuals. Approximately 25-30% of XP patients present with neurological symptoms, such as sensorineural deafness, mental deterioration and ataxia. Although it is known that dysfunctional DNA repair is the primary pathogenesis in XP, growing evidence suggests that mitochondrial pathophysiology may also occur. This appears to be secondary to dysfunctional NER but may contribute to the neurodegenerative process in these patients. The available pharmacological treatments in XP mostly target the dermal manifestations of the disease. In the present review, we outline how current understanding of the pathophysiology of XP could be used to develop novel therapies to counteract the neurological symptoms. Moreover, the coexistence of cancer and neurodegeneration present in XP led us to focus on possible new avenues targeting mitochondrial pathophysiology. LINKED ARTICLES: This article is part of a themed section on Mitochondrial Pharmacology: Featured Mechanisms and Approaches for Therapy Translation. To view the other articles in this section visit http://onlinelibrary.wiley.com/doi/10.1111/bph.v176.22/issuetoc.