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.
