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Epidemiological, Clinical, and Molecular Study of a Cohort of Italian Parkinson Disease Patients: Association with Glutathione-S-Transferase and DNA Repair Gene Polymorphisms

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Abstract

Parkinson’s disease (PD) is one of the most common neurodegenerative disorders whose etiology is multifactorial including both hereditary and environmental factors. Currently, pathogenic mutations in at least five genes have been implicated in familial PD generally accounting for less than 10 % of all PD cases in most populations. It has been suggested that polymorphisms in other genes such as those encoding enzymes involved in oxidative metabolism and detoxification could be involved in predisposition to PD since oxidative stress in dopaminergic neurons is thought to be of central importance in the pathogenesis of the disease. The aim of our work was to study the association of genetic polymorphisms in genes involved in oxidative metabolism and detoxification mechanism, namely GSTM1, GSTT1, GSTP1, and those involved in DNA damage repair, OGG1 and XRCC1, in an Italian cohort of sporadic PD patients. We did not detect any association between GSTT1 and GTTM1 null polymorphisms and PD, whereas the 104GSTP1 polymorphism was associated with PD in male patients but not in females. Furthermore, we detected a protective effect of wild type genotype of XRCC1 in women.

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Acknowledgments

The authors thank Tamara Ialongo for patient database management and DNA sample extraction. This paper was supported by a Grant (Ricerca Scientifica 2008–2009) from Don Carlo Gnocchi Foundation, Italy.

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Authors and Affiliations

  1. Department of Science, Roma Tre University, Viale Guglielmo Marconi 446, 00146, Rome, Italy

    Tommaso Cornetta & Renata Cozzi

  2. Technical Unit of Radiation Biology and Human Health, ENEA Casaccia, Rome, Italy

    Clarice Patrono, Antonella Testa, Valentina Palma & Tommaso Poggioli

  3. Department of Epidemiology, Regina Elena Cancer Institute, Rome, Italy

    Irene Terrenato

  4. Institute of Neurology, Catholic University, Rome, Italy

    Francesca De Nigris & Anna Rita Bentivoglio

  5. IRCCS Don Carlo Gnocchi Foundation-ONLUS, Milan, Italy

    Tommaso Cornetta & Luca Padua

Authors
  1. Tommaso Cornetta
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  2. Clarice Patrono
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  3. Irene Terrenato
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  4. Francesca De Nigris
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  5. Anna Rita Bentivoglio
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  6. Antonella Testa
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  7. Valentina Palma
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  8. Tommaso Poggioli
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  9. Luca Padua
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  10. Renata Cozzi
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Correspondence to Renata Cozzi.

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Cornetta, T., Patrono, C., Terrenato, I. et al. Epidemiological, Clinical, and Molecular Study of a Cohort of Italian Parkinson Disease Patients: Association with Glutathione-S-Transferase and DNA Repair Gene Polymorphisms. Cell Mol Neurobiol 33, 673–680 (2013). https://doi.org/10.1007/s10571-013-9933-8

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  • DOI: https://doi.org/10.1007/s10571-013-9933-8

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