Festschrift: Peter Beighton

Spinocerebellar ataxia type 7 in South Africa: Epidemiology, pathogenesis and therapy

L Watson, D C Smith, J Scholefield, R Ballo, S Kidson, L J Greenberg, M J A Wood

Abstract


Disorders of the nervous system represent a significant proportion of the global burden of non-communicable diseases, due to the trend towards ageing populations. The Department (now Division) of Human Genetics at the University of Cape Town (UCT) has been involved in pioneering research into these diseases since the appointment of Prof. Peter Beighton as Head of Department in 1972. Beighton’s emphasis on understanding the genetic basis of disease laid the groundwork for investigations into several monogenic neurodegenerative conditions, including Huntington’s disease and the polyglutamine spinocerebellar ataxias (SCAs). In particular, SCA7, which occurs at an unusually high frequency in the South African (SA) population, was identified as a target for further research and therapeutic development. Beginning with early epidemiological surveys, the SCA7 project progressed to molecular genetics-based investigations, leading to the identification of a founder effect in the SA SCA7 patient population in the mid-2000s. Capitalising on the founder haplotype shared by many SCA7 patients, UCT researchers went on to develop the first population-specific gene-silencing approach for the disease. More recently, efforts have shifted to the development of a more accurate model to decipher the precise mechanisms of neurodegeneration, using induced pluripotent stem cells derived from SA SCA7 patients. In many ways, the SA SCA7 journey reflects the legacy and vision of Prof. Peter Beighton, and his efforts to establish world-class, collaborative research into diseases affecting the African continent.

 

Authors' affiliations

L Watson, Department of Physiology, Anatomy and Genetics, Medical Science Division, University of Oxford, UK; and Division of Human Genetics, Department of Pathology, Faculty of Health Sciences, University of Cape Town, South Africa

D C Smith, Division of Human Genetics, Department of Pathology, Faculty of Health Sciences, University of Cape Town, South Africa; and Division of Neurology, Department of Medicine, Faculty of Health Sciences, University of Cape Town, South Africa

J Scholefield, Division of Human Genetics, Department of Pathology, Faculty of Health Sciences, University of Cape Town, South Africa; and Gene Expression and Biophysics Group, Synthetic Biology ERA, Council for Scientific and Industrial Research (CSIR) Biosciences, Pretoria, South Africa

R Ballo, Division of Cell Biology, Department of Human Biology, Faculty of Health Sciences, University of Cape Town, South Africa

S Kidson, Division of Cell Biology, Department of Human Biology, Faculty of Health Sciences, University of Cape Town, South Africa; and Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, South Africa

L J Greenberg, Division of Human Genetics, Department of Pathology, Faculty of Health Sciences, University of Cape Town, South Africa; and Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, South Africa

M J A Wood, Department of Physiology, Anatomy and Genetics, Medical Science Division, University of Oxford, UK; and Division of Human Genetics, Department of Pathology, Faculty of Health Sciences, University of Cape Town, South Africa

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Cite this article

South African Medical Journal 2016;106(6):S107. DOI:10.7196/SAMJ.2016.v106i6.11010

Article History

Date submitted: 2016-05-06
Date published: 2016-05-25

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