Abeti, R;
Zeitberger, A;
Peelo, C;
Fassihi, H;
Sarkany, RPE;
Lehmann, AR;
Giunti, P;
(2019)
Xeroderma pigmentosum: overview of pharmacology and novel therapeutic strategies for neurological symptoms.
British Journal of Pharmacology
, 176
(22)
pp. 4293-4301.
10.1111/bph.14557.
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Abstract
Xeroderma Pigmentosum (XP) encompasses a group of rare diseases characterised in most cases by nucleotide excision repair (NER) malfunction, resulting in an increased sensitivity to ultraviolet 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, lead us to focus on possible new avenues targeting mitochondrial pathophysiology.
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