中国神经再生研究(英文版) ›› 2019, Vol. 14 ›› Issue (1): 75-76.doi: 10.4103/1673-5374.243706

• 观点:退行性病与再生 • 上一篇    下一篇

帕金森病中的药物基因组学:个体化医学的观点?

  

  • 出版日期:2019-01-15 发布日期:2019-01-15

Pharmacogenomics in Parkinson’s disease: which perspective for developing a personalized medicine?

Cinzia Ciccacci, Paola Borgiani   

  1. Department of Biomedicine and Prevention, Section of Genetics, School of Medicine, University of Rome Tor Vergata, Rome, Italy
  • Online:2019-01-15 Published:2019-01-15
  • Contact: Cinzia Ciccacci, BSc, PhD, cinziaciccacci@libero.it.

摘要:

orcid: 0000-0002-3995-7032 (Cinzia Ciccacci)

Abstract:

Every disease treatment is ideally finalized to prevent symptom occurrence, to stop or slow down the pro-gression of disease, to alleviate complications already present and consequently to improve the quality of life for each patient. Unfortunately, in Parkinson’s disease (PD) a treatment able to completely cure the disease is not so far available. Indeed, until now, the current therapies only allow to control the disease symptoms, without ensuring a long term efficacy and without reducing the risk to develop adverse drug reactions. The actual gold standard therapy consists in levodo-pa treatment, often used in combination with dopa-mine receptor agonists, catechol-O-methyltransferase (COMT) inhibitors or monoamine oxidase inhibitors. While the treatment with levodopa ameliorates the motor function of the patients, not all patients reach the therapeutic effect and many develop motor compli-cations after using the drug for a prolonged time. On the other side, the dopamine receptor agonist drugs can cause psychosis, visual hallucinations, excessive daytime sleepiness, compulsive behavior and impulse control disorders, while the COMT inhibitors can in-duce hepatotoxicity. Variability in drug response is a multifactorial character that depends on clinical, envi-ronmental and genetic factors. In the last decades, the increasing knowledge in the human genome inter-in-dividual variability led genetics and pharmacogenom-ics to assume a central role for the study and develop-ment of personalized and stratified medicine, with the claimed aim to decrease the number of adverse drug reactions and to increase the efficacy of drug therapy. Although in some fields, such as oncology and psychi-atry, pharmacogenomics studies have already allowed the identification and validation of genomic biomark-ers able to stratify groups of patients and to guarantee a personalized and precision medicine, in PD this is unfortunately still far to reach.