Pathology-supported genetic testing presents opportunities for improved disability outcomes in multiple sclerosis-Reference-Cited by-同舟云学术

Pathology-supported genetic testing presents opportunities for improved disability outcomes in multiple sclerosis

Published:2023-03 Issue:2 Volume:20 Page:107-130
ISSN:1741-0541
Container-title:Personalized Medicine
language:en
Short-container-title:Personalized Medicine

Author:

Johannes Clint¹^ORCID,Moremi Kelebogile E²^ORCID,Kemp Merlisa C³^ORCID,Whati Lindiwe⁴,Engel-Hills Penelope⁵^ORCID,Kidd Martin⁶,Toorn Ronald van⁷^ORCID,Jaftha Mariaan⁸⁹^ORCID,van Rensburg Susan J¹⁰^ORCID,Kotze Maritha J²^ORCID

Affiliation:

1. Department of Internal Medicine, Faculty of Medicine & Health Sciences, Stellenbosch University, Cape Town, 7500, South Africa

2. Division of Chemical Pathology, Department of Pathology, Faculty of Medicine & Health Sciences, Stellenbosch University, & National Health Laboratory Service (NHLS), Cape Town, 7500, South Africa

3. Department of Medical Imaging & Therapeutic Sciences, Faculty of Health & Wellness Sciences, Cape Peninsula University of Technology, Bellville campus, Cape Town, 7530, South Africa

4. Gknowmix (Pty) Ltd, Bellville, 7530, South Africa

5. Faculty of Health & Wellness Sciences, Cape Peninsula University of Technology, Cape Town, 7530, South Africa

6. Department of Statistics & Actuarial Sciences, Stellenbosch University, Private Bag X1, Matieland, 7602, South Africa

7. Department of Pediatrics & Child Health, Faculty of Medicine & Health Sciences, Stellenbosch University, Cape Town, 7500, South Africa

8. Department of Medical Imaging & Therapeutic Sciences, Faculty of Health & Wellness Sciences, Cape Peninsula University of Technology, Bellville, 7530, South Africa

9. Cape University Body Imaging Centre, Faculty of Human Biology, University of Cape Town, Cape Town, 7925 South Africa

10. Division of Chemical Pathology, Department of Pathology, Faculty of Medicine & Health Sciences, Stellenbosch University, Cape Town, 7500, South Africa

Abstract

Background: Lipid metabolism may impact disability in people with multiple sclerosis (pwMS). Methods: Fifty-one pwMS entered an ultrasound and MRI study, of whom 19 had followed a pathology-supported genetic testing program for more than 10 years (pwMS-ON). Genetic variation, blood biochemistry, vascular blood flow velocities, diet and exercise were investigated. Results: pwMS-ON had significantly lower (p < 0.01) disability (Expanded Disability Status Scale) than pwMS not on the program (1.91 ± 0.75 vs 3.87 ± 2.32). A genetic variant in the lipid transporter FABP2 gene (rs1799883; 2445G>A, A54T) was significantly associated (p < 0.01) with disability in pwMS not on the program, but not in pwMS-ON (p = 0.88). Vascular blood flow velocities were lower in the presence of the A-allele. Conclusion: Pathology-supported genetic testing may provide guidance for lifestyle interventions with a significant impact on improved disability in pwMS.

Funder

Health and Welfare Sector Education and Training Authority (HW SETA) of South Africa

National Health Laboratory Service

The Department of Science and Innovation and the Technology Innovation Agency, South Africa

The South African BioDesign Initiative of the Department of Science and Innovation

The Technology Innovation Agency, South Africa

Winetech, South Africa

Publisher

Future Medicine Ltd

Subject

Pharmacology,Molecular Medicine,General Medicine

Link

https://www.futuremedicine.com/doi/pdf/10.2217/pme-2022-0016

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