Objective: To investigate the genetic etiology in a group of South Africa Parkinson’s disease (PD) patients.

Background: The genetic etiology of PD is complex and several disease-causing genes and susceptibility factors have been identified. Some of these are ethnic-specific such as the G2385R and R1628P variants in LRRK2 that have been associated with an increased risk of PD only in Asian populations. Also, the G2019S mutation in LRRK2 has been found to account for a significant proportion of North African Arab (∼30%) and Ashkenazi Jewish (∼18%) patients due to genetic founder effects. Sub-Saharan African populations have been understudied in PD and this is the focus of the present study.

Methods: Study participants were recruited from the Movement Disorders clinic at Tygerberg Hospital, Cape Town, South Africa and had to meet the UK Parkinson’s disease Society Brain Bank Diagnostic Criteria for PD. These individuals were from the South African mixed ancestry ethnic group which is a unique admixture of Khoisan, Black, Caucasian, and Asian populations (de Wit et al, 2010). RNA and DNA were isolated from blood samples. RNA-Seq was performed on a subset of the participants (20 patients and 20 controls) at NXT-Dx (Ghent, Belgium) on an Illumina HiSeq 2500. Copy number variation (CNV) detection was determined using a Multiplex Ligation-dependent Probe Amplification (MLPA) SALSA probemix P051-D1 kit (MRC-Holland, Netherlands).

Results: RNA-seq has been performed and has passed the quality control assessments, and data analysis is currently underway. Moreover, all of the patients have been screened for CNV mutations and a heterozygous deletion of exon 2 of PARK2 was detected in one patient. This patient was diagnosed with early-onset PD at the age of 48 years with no family history of PD.

Conclusions: The study of gene expression profiles in PD patients may lead to a better understanding of the pathogenic processes underlying this disorder. Studying the genetic etiology in unique ethnic groups such as the ones found in South Africa may reveal novel genetic factors involved in PD development.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/investigation-into-the-genetic-etiology-in-south-african-parkinsons-disease-patients/