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Article
Open AccessDifferent pieces of the same puzzle: a multifaceted perspective on the complex biological basis of Parkinson’s disease
The biological basis of the neurodegenerative movement disorder, Parkinson’s disease (PD), is still unclear despite it being ‘discovered’ over 200 years ago in Western Medicine. Based on current PD knowledge, ...
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Article
Neurexin 2 p.G849D variant, implicated in Parkinson’s disease, increases reactive oxygen species, and reduces cell viability and mitochondrial membrane potential in SH-SY5Y cells
Parkinson’s disease (PD) is a neurodegenerative movement disorder, affecting 1–2% of the human population over 65. A previous study by our group identified a p.G849D variant in neurexin 2α (NRXN2) co-segregating ...
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Article
Open AccessRNA-seq analysis of gene expression profiles in posttraumatic stress disorder, Parkinson’s disease and schizophrenia identifies roles for common and distinct biological pathways
Evidence suggests that shared pathophysiological mechanisms in neuropsychiatric disorders (NPDs) may contribute to risk and resilience. We used single-gene and network-level transcriptomic approaches to invest...
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Article
Toxic Feedback Loop Involving Iron, Reactive Oxygen Species, α-Synuclein and Neuromelanin in Parkinson’s Disease and Intervention with Turmeric
Parkinson’s disease (PD) is a movement disorder associated with severe loss of mainly dopaminergic neurons in the substantia nigra. Pathological hallmarks include Lewy bodies, and loss of neuromelanin, due to ...
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Article
A model PD registry for countries with limited resources
The Nigerian Parkinson Disease registry is the first published national Parkinson disease registry in sub-Saharan Africa. Though the clinical data and number of participants are currently limited in comparison...
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Open AccessTargeted next-generation sequencing identifies novel variants in candidate genes for Parkinson’s disease in Black South African and Nigerian patients
The prevalence of Parkinson’s disease (PD) is increasing in sub-Saharan Africa, but little is known about the genetics of PD in these populations. Due to their unique ancestry and diversity, sub-Saharan Africa...
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Article
Frequency of the LRRK2 G2019S mutation in South African patients with Parkinson’s disease
G2019S in LRRK2 is the most common mutation associated with Parkinson’s disease (PD). Highest frequencies are in North African Arabic (30–41%) and Ashkenazi Jewish (6–30%) populations, mostly due to founder effec...
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Article
Open AccessWhole-genome sequencing for an enhanced understanding of genetic variation among South Africans
The Southern African Human Genome Programme is a national initiative that aspires to unlock the unique genetic character of southern African populations for a better understanding of human genetic diversity. I...
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Curcumin Rescues a PINK1 Knock Down SH-SY5Y Cellular Model of Parkinson’s Disease from Mitochondrial Dysfunction and Cell Death
Parkinson’s disease (PD) is a neurodegenerative disorder characterised by the loss of dopaminergic neurons in the substantia nigra. Mutations in the PINK1 gene result in an autosomal recessive form of early-onset...
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Article
Open AccessGitelman syndrome in a South African family presenting with hypokalaemia and unusual food cravings
Gitelman syndrome (GS) is an autosomal recessive renal tubular disorder characterised by renal salt wasting with hypokalaemia, metabolic alkalosis, hypomagnesaemia and hypocalciuria. It is caused by mutations in
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Article
Open AccessA new tool for prioritization of sequence variants from whole exome sequencing data
Whole exome sequencing (WES) has provided a means for researchers to gain access to a highly enriched subset of the human genome in which to search for variants that are likely to be pathogenic and possibly pr...
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Screening of two indel polymorphisms in the 5′UTR of the DJ-1 gene in South African Parkinson’s disease patients
Mutations in the DJ-1 gene have been implicated in early-onset Parkinson’s disease (PD). Two indel variants (g.168_185del and g.-6_+10del) in the 5′UTR of DJ-1 have been described. Genoty** of both variants in ...
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Article
Identification of Parkinson’s disease candidate genes using CAESAR and screening of MAPT and SNCAIP in South African Parkinson’s disease patients
Assuming that a significant cause of Parkinson’s disease (PD) is genetic, genetic factors have been shown to account for <10% of all PD cases to date, and it is therefore necessary to identify novel genes. The...
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Article
LRRK2 G2019S mutation: frequency and haplotype data in South African Parkinson’s disease patients
Mutations in the leucine-rich repeat kinase 2 gene (LRRK2) are the most significant genetic cause of Parkinson’s disease (PD). The exact function of LRRK2 is currently unknown but the presence of multiple protein...
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Analysis of exon dosage using MLPA in South African Parkinson's disease patients
Genomic rearrangements (exon dosage) are common mutations reported in Parkinson's disease (PD) patients. In the present study, we aimed to investigate the prevalence of genomic rearrangements in 88 South Afric...
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Article
Open AccessIdentification of a novel functional deletion variant in the 5'-UTR of the DJ-1 gene
DJ-1 forms part of the neuronal cellular defence mechanism against oxidative insults, due to its ability to undergo self-oxidation. Oxidative stress has been implicated in the pathogenesis of central nervous s...
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Article
Open AccessA rapid method for detection of five known mutations associated with aminoglycoside-induced deafness
South Africa has one of the highest incidences of multidrug-resistant tuberculosis (MDR-TB) in the world. Concomitantly, aminoglycosides are commonly used in this country as a treatment against MDR-TB. To date...
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Article
Open AccessArrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable disorder characterized by progressive degeneration of right ventricular myocardium, arrhythmias and an increased risk of sudden death at a ...
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Article
Retinitis pigmentosa locus on 17q (RP17): fine localization to 17q22 and exclusion of the PDEG and TIMP2 genes
This group has previously reported the map** of a novel locus for autosomal dominant retinitis pigmentosa (adRP) in a South African kindred to 17q. Using a new series of microsatellite markers in this study...
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Article
Expanded CAG repeats in spinocerebellar ataxia (SCA1) segregate with distinct haplotypes in South African families
The autosomal dominant late onset spinocerebellar ataxias (SCAs) are genetically heterogeneous. Three genes, SCA1 on 6p, SCA2 on 12q and MJD1 on 14q, have been isolated for SCA1, SCA2 and Machado-Joseph disea...
