Expresión de alfa sinucleína en sangre y su relación con el estreñimiento crónico en población residente en Bogotá, D.C., con problemas de consumo de alcohol

INTRODUCTION: Excessive alcohol consumption results in neuroadaptation, neurodegeneration, and differential expression of numerous genes. OBJECTIVE: To determine the relationship between the expression of the alpha synuclein gene (SNCA) in blood, single nucleotide variant (SNV) in its promoter region, and chronic constipation in people with problems of alcohol consumption. MATERIALS AND METHODS: The sample consisted of 35 controls and 27 cases selected according to the score obtained with the AUDIT tool. For the diagnosis of constipation, the Rome IV criteria were applied. Nucleic acid extraction was performed from peripheral blood and the expression of the gene was evaluated by qPCR, protein quantification by ELISA, and the presence of SNV in the promoter region of the gene by Sanger sequencing. RESULTS: We observed a relative gene overexpression of SNCA mRNA in the case group, which was not related to the diagnosis of chronic constipation. There was 4.8 times greater risk of presenting constipation in the group of cases. Besides, nine single nucleotide variants were found in a segment of the promoter region of the gene rich in CpG regulatory sequences with similar frequency between the groups while a variant was identified in position -2171, which is not reported in GenBank for variants and whose genotype A/T was associated with increased expression of SNCA mRNA. CONCLUSION: We evidenced an overexpression of alpha synuclein mRNA in people with problems of alcohol consumption that was not related to the diagnosis of chronic constipation.