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2025, Number 1

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Investigación en Discapacidad 2025; 11 (1)

Study of the Rep-1 microsatellite of the alpha-synuclein gene in patients with idiopathic Parkinson´s disease

Marroquí-Sánchez CG, Paniagua-Pérez R, Carrillo-Mora P, Martínez-Cortez JA, Hernández-Arenas C, León-Hernández SR, Verduzco-Mendoza A, Olmos-Hernández AS, Ávila-Luna A, Bueno-Nava A, Gálvez-Rosas A

Language: Spanish
References: 30
Page: 10-16
PDF size: 341.04 Kb.


ABSTRACT

Introduction: the search for a reliable biomarker for the diagnosis of Parkinson's disease (PD) is crucial for understanding the illness and preventing disability. In the alpha synuclein (α-Syn) gene, a microsatellite-type dinucleotide called Rep-1 has been identified that could be used as a risk biomarker in PD. Objective: the aimed of this study was to identify the variants of the Rep-1 microsatellite of the α-Syn gene in patients with PD. Material and methods: a study was conducted with 15 PD patients and 15 healthy controls. A peripheral blood sample was taken for genomic DNA extraction. Genotyping of the dinucleotide repeats was performed on an ABI PRISM 3500xL DNA sequencer. Means were compared with a Student t-test and proportions with Pearson's χ2. The risk of PD was measured with OR and 95% CI. Multivariate analysis was performed with binary logistic regression, using the backward Wald method. Results: in the bivariate analysis, cases were significantly older (p = 0.05), had a higher proportion of diabetes mellitus (p = 0.03) and dyslipidemia (p = 0.008). Long alleles (> 265 bp) had a 1.37 times higher odds ratio of being observed in cases than in controls (p = 0.09). Logistic regression selected dyslipidemia (p = 0.009) and smoking (p = 0.09) as risk factors associated with PD. Conclusion: smoking, dyslipidemia and microsatellites longer than 265 bp of the α-Syn gene were associated with a higher risk of PD.


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