Screening of the glucocerebrosidase (GBA) gene in South Africans of African ancestry with Parkinson's disease

dc.contributor.authorMahungu, Amokelani C.
dc.contributor.authorAnderson, David G.
dc.contributor.authorRossouw, Anastasia C.
dc.contributor.authorVan Coller, Riaan
dc.contributor.authorCarr, Jonathan A.
dc.contributor.authorRoss, Owen A.
dc.contributor.authorBardien, Soraya
dc.date.accessioned2020-04-02T12:03:55Z
dc.date.issued2020-04
dc.description.abstractSequence variants in glucocerebrosidase (GBA) are a major genetic risk factor for Parkinson's disease (PD), and display ethnic-dependent frequencies, for example, variants such as p.N370S and 84insGG are common in Ashkenazi Jewish patients. Notably, there are limited studies on black patients from the African continent; hence, we conducted a study on 30 South African black PD patients. All 11 exons of GBA were screened using a nested PCR approach to avoid pseudogene contamination. We identified previously described Gaucher's disease–associated variants, p.R120W in one patient [age at onset (AAO) of 35 years], and p.R131L in another patient (AAO 30 years) and in her affected sibling (AAO 45 years). In addition, we found 3 previously identified [p.K(-27)R, p.T36del, and p.Q497*] and 2 novel (p.F216L and p.G478R) variants. Screening of ethnic-matched controls for the novel variants revealed that the allele frequency of p.F216L was 9.9%, whereas p.G478R was not found in the controls. Studies such as these are important and necessary to reveal the genetic architecture underlying PD in the understudied patients of African ancestry.en_ZA
dc.description.departmentNeurologyen_ZA
dc.description.embargo2021-04-01
dc.description.librarianhj2020en_ZA
dc.description.sponsorshipThe National Research Foundation of South Africa (Grant Number: 106052), the South African Medical Research Council (Self-Initiated Research Grant), and Stellenbosch University.en_ZA
dc.description.urihttp://www.elsevier.com/locate/neuagingen_ZA
dc.identifier.citationMahungu, A.C., Anderson, D.G., Rossouw, A.C. et al. 2020, 'Screening of the glucocerebrosidase (GBA) gene in South Africans of African ancestry with Parkinson's disease', Neurobiology of Aging, vol. 88, pp. 156.e11-156.e14.en_ZA
dc.identifier.issn0197-4580 (print)
dc.identifier.issn1558-1497 (online)
dc.identifier.other10.1016/j.neurobiolaging.2019.12.011
dc.identifier.urihttp://hdl.handle.net/2263/73913
dc.language.isoenen_ZA
dc.publisherElsevieren_ZA
dc.rights© 2019 Elsevier Inc. All rights reserved. Notice : this is the author’s version of a work that was accepted for publication in Neurobiology of Aging. Changes resulting from the publishing process, such as peer review, editing, corrections, structural formatting, and other quality control mechanisms may not be reflected in this document. A definitive version was subsequently published in Neurobiology of Aging, vol. 88, pp. 156.e11-156.e14, 2020. doi : 10.1016/j.neurobiolaging.2019.12.011.en_ZA
dc.subjectGlucocerebrosidase (GBA)en_ZA
dc.subjectParkinson’s disease (PD)en_ZA
dc.subjectAfrican ancestryen_ZA
dc.subjectSouth Africanen_ZA
dc.subjectGBA variantsen_ZA
dc.subject.otherHealth sciences articles SDG-03
dc.subject.otherSDG-03: Good health and well-being
dc.titleScreening of the glucocerebrosidase (GBA) gene in South Africans of African ancestry with Parkinson's diseaseen_ZA
dc.typePostprint Articleen_ZA

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