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

Authors

Keywords:

Parkinson's disease, alpha-synuclein gene, Rep-1 microsatellite

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: Thirty patients (15 with PD and 15 controls) were recruited from the neurology clinic and the outpatient clinic, respectively. Blood sampling was taken to extract genomic DNA. The genotyping of the repeated dinucleotides was performed with the GENESCAN analysis software on an ABI PRISM 3500xL DNA sequencer. A t-student was used to compare the data, and the qualitative variables were analyzed through a χ2 and to obtain probability risk.  Results: From the 15 patients diagnosed with PD, 10 (66.7%) were women and 5 (33.3%) were men, with an average age of 65 ± 6.36 years. The most frequent α-Syn gene variants were the 265 bp variant with 63.3% and the 267 bp variant with 20% in both groups. There was a greater significance of the longer alleles in PD patients with a risk probability of 1.37 (p=0.09). Conclusion: The identification of the Rep-1 microsatellite of the α-Syn gene showed a trend of larger alleles (>265 bp) as a risk factor for idiopathic PD.

Author Biographies

Cristian G Marroquí-Sánchez, undergraduate student of Instituto Nacional de Rehabilitación

neurocience coordination

Rogelio Paniagua-Pérez, Institituto Nacional de Rehabilitación

biochemistry service

Paul Carrillo-Mora, instituto nacional de rehabilitación

neuroscience coordination

José A Martínez-Cortez , instituto nacional de rehabilitación

neurology service

Claudia Hernández-Arenas , instituto nacional de rehabilitación

acquired brain injury service

Antonio Verduzco-Mendoza, instituto nacional de rehabilitación

B. and experimental surgery

Adriana Olmos-Hernández , Instituto Nacional de Rehabilitación

B and experimental surgery

Alberto Ávila-Luna, Instituto Nacional de Rehabilitación

basic neuroscience coordination

Antonio Bueno-Nava, Instituto Nacional de Rehabilitación

basic neuroscience coordination

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Published

2024-11-29

How to Cite

1.
Marroquí-Sánchez CG, Paniagua-Pérez R, Carrillo-Mora P, Martínez-Cortez JA, Hernández-Arenas C, Verduzco-Mendoza A, et al. Study of the Rep-1 microsatellite of the alpha-synuclein gene in patients with idiopathic Parkinson’s disease. InDiscap [Internet]. 2024 Nov. 29 [cited 2024 Dec. 4];. Available from: http://dsm.inr.gob.mx/indiscap/index.php/INDISCAP/article/view/58

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