Objective: The aim of the present study was to perform the mutational screening of PARK2 gene and dopamine level in PD patients of Coimbatore population, Tamil Nadu, India.

Background: Parkinson’s disease (PD) is a neurodegenerative disorder accompanied by depletion of dopamine and loss of dopaminergic neurons (DA) in the brain that is believed to be responsible for the motor and non-motor symptoms of PD. Parkin belongs to the RBR family of E3 ubiquitin ligase, which is involved in varied cytosolic and mitochondrial functions. Parkin mutations lead to early synaptic damage and appear as a crucial gene having a vast functioning area in PD.

Method: Totally 16 samples were selected including 8 PD patients and 8 Controls. PD subjects were interviewed using Unified Parkinson’s Disease Rating Scale (UPDRS) questionnaire and informed consent has been obtained from the PD subjects and controls. Institutional ethical clearance was obtained. Family history was considered positive if PD was reported in a first or second degree relative, depending on the pedigree. Genomic DNA was isolated from blood samples followed by PCR and sequencing data from the PD and control subjects.

Results: Higher degree of PARK2 gene point mutation was observed from PD patients compared to controls. In addition, decreased level of dopamine was measured in PD subjects.

Conclusion: In conclusion, an increased number of mutational studies of PARK2 mutations in PD patients are reported, but present study is the first to evaluate the mutation frequency of this gene in Coimbatore patients.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/screening-of-mutations-in-park2-gene-and-dopamine-levels-in-parkinsons-disease-pd-patients-in-coimbatore-population-india/