The Role of Single Nucleotide Polymorphisms of Monoamine Oxidase B, Dopamine D2 Receptor, and DOPA Decarboxylase Receptors Among Patients Treated for Parkinson\u2019s Disease

Barbara Zapała,Tomasz Stefura,Monika Piwowar,Sylwia Czekalska,Bogdan Solnica,Magdalena Zawada,Monika Rudzińska-Bar,Maria Hadasik

doi:10.1007/s12031-022-01966-3

Abstract

This study aimed to investigate the association between selected variants of genes related to dopamine metabolism pathways and the risk of and progression of Parkinson’s disease (PD). This prospective cohort study was conducted in one academic teaching hospital. The study was conducted on 126 patients diagnosed with idiopathic Parkinson’s disease. Blood samples were collected to conduct a genotyping of MAOB, DRD1, DRD2, and DDC genes. Genotype and allele frequencies of MAOB (rs1799836) variants were not associated with the course of PD. Genotype and allele frequencies of DRD2 (rs2283265) variants were associated with risk of dementia (p = 0.001) and resulted in parts II and III of the UPDRS scale (p = 0.001). Genotype and allele frequencies of DRD2 (rs1076560) variants were associated with risk of dementia (p = 0.001) and resulted in parts II and III of the UPDRS scale (p = 0.001). Genotype and allele frequencies of DDC (rs921451) variants were not associated with the course of PD.

Highlights

Parkinson’s disease (PD) is a chronic and progressive neurodegenerative disorder that affects over 4 million people worldwide (Kalia and Lang 2015)
This study aimed to investigate the association between selected variants of genes related to dopamine metabolism pathways, representative, functional polymorphisms, and the risk of and progression of Parkinsons disease
This study investigated the associations between polymorphisms within the Monoamine oxidase B (MAOB), DRD2, DOPA decarboxylase (DDC) genes and phenotypes in PD patients treated with levodopa

Summary

Introduction

Parkinson’s disease (PD) is a chronic and progressive neurodegenerative disorder that affects over 4 million people worldwide (Kalia and Lang 2015). PD is the second, after Alzheimer’s disease, the most common neurodegenerative disorder. It is characterized by bradykinesia and at least one of the following symptoms: resting tremor, rigidity, and postural instability (Cacabelos 2017). The research has shown that genetic factors play a pivotal role in developing PD, but especially with youth-onset, but the exact etiology of this disorder is still very elusive (Post et al 2020). The pathogenesis of PD is quite complex and still not fully understood. Previous research suggests that dysfunction of dopaminergic neurotransmission is involved in the pathogenesis of PD (Poewe et al 2017).

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