Acetylcholinesterase and association of ache 3' utr snp rs17228602 with psychiatric disorders

Abstract EN

Psychiatric disorders are complex mental conditions that cause significant emotional distress and impairment in a person's ability to function normally.

Globally, there is an alarming rise in the prevalence of psychiatric conditions.

Genetic and environmental factors are involved in the pathophysiology of these disorders, but molecular underpinnings are still elusive.

Cholinergic dysregulation is one of the etiology of psychiatric disorders.

This study was aimed to assess the status of hydrolyzing enzyme of the cholinergic neurotransmitter acetylcholinesterase (AChE) from blood and investigate the possible association of a single nucleotide polymorphism (rs17228602) in the 3'UTR region of the ACHE gene with a predisposition to psychiatric disorder.

Ninety-five confirmed psychiatric and one hundred thirty healthy individuals were recruited for the study with due consent.

AChE was determined by Elman's method.

SNP was studied by polymerase chain reaction-restricted fragment length polymorphism (PCR-RFLP) method and Sanger sequencing of DNA samples.

The results showed notably reduced ACHE levels in psychiatric cohorts with statistical significance (p<0.05).

Genotype and allelic association of the examined SNP revealed a risk of the psychiatric condition in patients.

It is concluded that AChE activity and the ACHE gene's 3'-UTR variant have a significant role in developing psychiatric disorders.

Further studies will open a new direction of the investigation and therapeutic interventions for psychiatric disorders.

However, further study with more study participants of homogenous composition in terms of psychiatric disorder is recommended to conclusively understand the role of ACHE gene variants in the development of psychiatric diseases.