Please use this identifier to cite or link to this item: http://hdl.handle.net/11189/9759
Title: Pathology-supported genetic testing presents opportunities for improved disability outcomes in multiple sclerosis
Authors: Johannes, Clint 
Moremi, Kelebogile E. 
Kemp, Merlisa C. 
Whati, Lindiwe 
Engel-Hills, Penelope 
Kidd, Martin 
Van Toorn, Ronald 
Jaftha, Mariaan 
Van Rensburg, Susan J. 
Kotze, Maritha J. 
Keywords: EDSS;FABP2 genetic variant;disability;pathology-supported genetic testing;personalized medicine;multiple sclerosis;unsaturated fatty acids;vascular ultrasound.
Issue Date: 2023
Publisher: Future Medicine
Source: Johannes, C. 2023. Pathology-supported genetic testing presents opportunities for improved disability outcomes in multiple sclerosis. Personalized Medicine,20(2):107-130. [https://doi.org/10.2217/pme-2022-0016]
Journal: Personalized Medicine 
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.
URI: http://hdl.handle.net/11189/9759
ISSN: 1741-0541
1744-828X (Online)
DOI: doi.org/10.2217/pme-2022-0016
Appears in Collections:HWSci - Journal Articles (DHET subsidised)

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