RESUMO
INTRODUCTION: LRRK2 mutations have been described as a common cause of Parkinson's disease (PD) in patients from northern Spain. Here we investigated the prevalence of these mutations in a cohort of Spanish PD patients (n = 96) from Extremadura, a region in southwestern Spain. SUBJECTS AND METHODS: To evaluate the rate of the G2019S and R1441G/C/H LRKK2 mutations in PD patients and healthy controls (n = 163). RESULTS: Here we show that the G2019S mutation is present at a low prevalence in our Spanish cohort, while the R1441G/C/H mutation, which has been reported to be common in northern Spain, was not observed in the PD patients or in the controls. CONCLUSION: LRRK2 mutations do not appear to be a common cause of Parkinson's disease in Extremadura, Spain.
Assuntos
Códon , Mutação , Doença de Parkinson/genética , Proteínas Serina-Treonina Quinases/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Marcadores Genéticos , Predisposição Genética para Doença , Testes Genéticos , Humanos , Serina-Treonina Proteína Quinase-2 com Repetições Ricas em Leucina , Masculino , Pessoa de Meia-Idade , Linhagem , EspanhaRESUMO
Introducción. Las mutaciones en el gen que codifica para la proteína LRRK2 se han asociado frecuentemente con la enfermedad de Parkinson (EP) en pacientes en el norte de España. En este artículo se determina la prevalencia de algunas de las mutaciones más frecuentes en una cohorte de pacientes con EP (n = 96) en Extremadura, región situada en el suroeste de España. Sujetos y métodos. Se pretende determinar la presencia de las mutaciones G2019S y R1441G/C/H de LRRK2 en pacientes con EP y en individuos sanos (n = 196). Resultados. La mutación G2019S se presenta con una baja prevalencia en nuestra muestra, mientras que las mutaciones R1441G/C/H, frecuentes en el norte de España, no se han detectado en la muestra de enfermos ni en los controles. Conclusión. Las mutaciones en LRRK2 no parecen ser una causa frecuente de la EP en Extremadura (AU)
Introduction. LRRK2 mutations have been described as a common cause of Parkinsons disease (PD) in patients from northern Spain. Here we investigated the prevalence of these mutations in a cohort of Spanish PD patients (n = 96) from Extremadura, a region in southwestern Spain. Subjects and methods. To evaluate the rate of the G2019S and R1441G/C/H LRKK2 mutations in PD patients and healthy controls (n = 163). Results. Here we show that the G2019S mutation is present at a low prevalence in our Spanish cohort, while the R1441G/C/H mutation, which has been reported to be common in northern Spain, was not observed in the PD patients or in the controls. Conclusion. LRRK2 mutations do not appear to be a common cause of Parkinsons disease in Extremadura, Spain (AU)
Assuntos
Humanos , Doença de Parkinson/genética , Mutação , Marcadores Genéticos , Predisposição Genética para Doença , Estudos de Casos e ControlesRESUMO
Turmeric (curry powder), an essential ingredient of culinary preparations of Southeast Asia, contains a major polyphenolic compound known as curcumin or diferuloylmethane. Curcumin is a widely studied phytochemical with a variety of biological activities. In addition to its anti-inflammatory and antimicrobial/antiviral properties, curcumin is considered as a cancer chemopreventive agent as well as a modulator of gene expression and a potent antioxidant. Since oxidative stress has been implicated in the degeneration of dopaminergic neurons in the substantia nigra in Parkinson's disease (PD), curcumin has been proposed to have potential therapeutic value for the treatment of neurodegenerative diseases such as PD. Following age, a family history of PD is the most commonly reported risk factor, suggesting a genetic component of the disease in a subgroup of patients. The LRRK2 gene has emerged as the gene most commonly associated with both familial and sporadic PD. Here, we report that exposure of rat mesencephalic cells to curcumin induces the expression of LRRK2 mRNA and protein in a time-dependent manner. The expression of other PD-related genes, such alpha-synuclein and parkin, was not affected by exposure to curcumin, and PTEN-induced putative kinase 1 (PINK1) was not expressed in rat mesencephalic cells. As LRRK2 overexpression is strongly associated with the pathological inclusions found in several neurodegenerative disorders, further studies are needed to evaluate the effects of curcumin as a therapeutic agent for neurodegenerative diseases.
