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Updated: May 11, 2026

The Use of Primary Human Fibroblasts for Monitoring Mitochondrial Phenotypes in the Field of Parkinson's Disease
Published on: October 3, 2012
Genetic association of sirtuin genes and Parkinson's disease
Silvia Jesús1, Pilar Gómez-Garre, Fátima Carrillo
1Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla/Instituto de Biomedicina de Sevilla, Av. Manuel Siurot s/n, 41013 Seville, Spain.
Abstract:
Parkinson's disease (PD) is a neurodegenerative disease caused by both genetic and environmental factors. Sirtuins are highly-conserved, NAD-dependent class III deacetylases that regulate a variety of cellular functions. Most of the known sirtuins have been involved in animal models of neurodegenerative disorders, such as PD. Although seven sirtuin family members have been identified (SIRT1-SIRT7) the relationship between sirtuins and PD in humans has not been established. Our aim was to investigate the association between sirtuin genes and risk of PD. We included 326 PD patients and 371 controls from southern Spain. Forty-one single nucleotide polymorphisms (SNPs) in sirtuin genes were genotyped in order to determine whether they were related to the risk of PD. These SNPs included Tag-SNPs, coding non-synonymous SNPs and SNPs affecting activity of microRNA binding sites. No relationship was found between these SNPs in sirtuin genes and PD. Our data indicate that variations in sirtuin genes do not affect the risk for PD, at least in our population.
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