Next generation sequencing approaches for novel gene discovery in South African Parkinson’s disease families
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Date
2022
Authors
Journal Title
Journal ISSN
Volume Title
Publisher
University of the Western Cape
Abstract
In the last decade, next-generation sequencing (NGS) approaches have revolutionised
the study of human genomics, particularly aiding the understanding of genetic diseases. Parkinson’s
disease (PD) is a complex neurodegenerative disorder with a heterogenous genetic disposition. This
disorder is clinically characterised by the progressive loss of dopaminergic neurons in the substantia
nigra pars compacta (SNpc). Subsequently, this results in a severe decrease of available dopamine
that manifests as a myriad of both motor and non-motor symptoms. Several genes, including
α-synuclein (SNCA), parkin (PRKN), leucine-rich repeat kinase 2 (LRRK2), PTEN induced putative
kinase 1 (PINK1), and protein deglycase (DJ-1), are confirmed as disease-causing in autosomal
recessive (AR), autosomal dominant (AD), early-onset (EO), and late-onset (LO) forms of the
disorder.
Description
Philosophiae Doctor - PhD
Keywords
African Ancestry, Bioinformatics, Parkinson’s disease, Public health, Neurodegenerative disorder