Neural Regeneration Research ›› 2023, Vol. 18 ›› Issue (10): 2204-2205.doi: 10.4103/1673-5374.369113

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Clues from a missense mutation of the adenosine A1 receptor gene associated with early-onset Parkinson’s disease

Sergi Ferré, Leonardo Pardo, Francisco Ciruela*#br#   

  1. Integrative Neurobiology Section, National Institute on Drug Abuse, Intramural Research Program, National Institutes of Health, Baltimore, MD, USA (Ferré S) 
    Laboratory of Computational Medicine, Biostatistics Unit, Faculty of Medicine, Universitat Autònoma Barcelona, Bellaterra, Barcelona, Spain (Pardo L) 
    Pharmacology Unit, Department of Pathology and Experimental Therapeutics, School of Medicine and Health Sciences, Institute of Neurosciences, University of Barcelona. Neuropharmacology & Pain Group, Neuroscience Program, Bellvitge Institute for Biomedical Research, L’Hospitalet de Llobregat, Spain (Ciruela F) 
  • Online:2023-10-15 Published:2023-03-28
  • Contact: Francisco Ciruela, PhD, fciruela@ub.edu.
  • Supported by:
    The present work was supported by the intramural funds of the National Institute in drug abuse (ZIA DA000493) (to SF); projects PID2019-109240RB-I00 (to LP) and PID2020-118511RB-I00 (to FC) were founded by MCIN/AEI/10.13039/501100011033, “ERDF A way of making Europe”.

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Abstract: Parkinson’s disease (PD) is a complex neurodegenerative disorder for which rare and common genetic variants contribute to disease risk, onset, and progression. The genetic contribution to PD can be classified mainly in, first, rare DNA variants that are highly penetrant and therefore causal, which are typically associated with monogenic PD; and second, more common risk polymorphic variants, which individually exert a small increase in the risk of the disease, which are usually identified in the most prevalent and apparently sporadic PD (Blauwendraat et al., 2020).