Gen DRD2, TH y DTNBP1 y la sintomatología de pacientes ecuatorianos esquizofrénicos tratados con haloperidol. Caso Clínico.

Abstract

Genetic variants of chemical neurotransmission have been associated with the development of schizophrenia. This is a syndromic mental disorder that affects the perception of reality and feelings of those affected. This disease is expressed in 1% of the world’s population; in all cases, antipsychotic drugs are used as treatment. Scientific evidence indicates that symptomatologic characteristics and therapeutic response has a genetic influence. The objective of the current work was to describe the presence or absence of allelic polymorphisms found on the dopamine gene and the therapeutic response of 11 Ecuadorian individuals treated with haloperidol (5mg.), for a period of 14 days. Single Nucleotide Polymorphisms (SNPs) in the DRD2, TH and DTNBP1 genes and evaluations recorded from the PANSS, BPRS and UKU scales were assessed. An association with a significance of P = 0.024 was found between the Taq1-B polymorphism on the DRD2 gene and the BPRS positive symptom scale; furthermore, an association with a significance of P = 0.045 was found with the PANSS negative symptoms scale. The absence of the Ser311Cys polymorphism on the DRD2 gene within the sample was also reported. In conclusion, it is noted that there is a statistically significant difference between the symptomatologic group, individuals with allele A / G SNP Taq1-B, and the group of individuals without the polymorphism. Even though the biological mechanisms behind this result are not understood, his study will serve as a basis for the development of future research related to this topic.