Objective: To assess the clinical feature of genetic changes in PARK1 (α-synuclein) and PARK2 with the help of PCR in patients with Parkinson’s disease and study its association with PD course.

Background: Most cases of Parkinson disease probably result from a complex interaction of environmental and genetic factors. These cases are classified as sporadic and occur in people with no apparent history of the disorder in their family. Gene mutations in PD usually is detected polymerase chain reaction (PCR) which is a technique used in molecular biology to amplify a single copy or a few copies of a segment of DNA across several orders of magnitude, generating thousands to millions of copies of a particular DNA sequence.

Methods: The study involved 50 patients with PD (28 men and 22 women with an average age of 56.6 ± 2.8 years, the average duration of the disease 6.9 ± 2.5 years, 3.0 on the Hoehn and Yahr scale (2.0-4.0). Blood samples were obtained in all patients. Rapid polymerase chain reaction (PCR) was performed with primers and fluorochrome-labeled probes on a Light Cycler.

Results: The study showed that mutations in PARK1 in 30% of patients with PD while 25% in PARK2. It was also noted that mutations in α-synuclein gene (A53T, A30P and E46K) and in addition to genomic triplications of a region of α-synuclein gene are associated with autosomal dominant PD. Patients with mutation in PARK 1 consisted of 48 % men and 52% women respectively. Patients with PARK 2 mutations comprised 53 % men and 47 % women. Mutations in the parkin gene are a major cause of autosomal recessive early onset PD. Several putative substrates of parkin were identified and the accumulation of one or several of these substrates is implicated in neurodegeneration. Heterozygous pathogenic variants for a few genes were analyzed in autosomal dominant forms of Parkinson disease in which the onset of disease is typically later than autosomal recessive forms of Parkinson disease.

Conclusions: Thus PCR allowed rapid production and mutation in short pieces of DNA in patients with PD at an early stage, even when not more than the sequence of the two primers is known. This ability of PCR augments and supplies these techniques with large amounts of pure DNA, sometimes as a single strand, enabling analysis even from very small amounts of starting material.

References: 1.Greggio E., Bisaglia M., Civiero L., Bubacco L. Leucine-rich repeat kinase 2 and alpha-synuclein: intersecting pathways in the pathogenesis of Parkinson’s disease? Mol Neurodegener. 2011. – Vol.6. – P.6. 2.Gupta N., Oppenheim I.M., Kauvar E.F., Tayebi N., Sidransky E. Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity // Blood Cells Mol Dis. 2011. – Vol.46, №1. -P.75-84.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/clinical-evaluation-of-genetic-changes-of-polymerase-chain-reaction-in-patients-with-pd-at-early-stage/