Related Experiment Video
Updated: Jun 16, 2026
Author Spotlight: Creating a Versatile Experimental Autoimmune Encephalomyelitis Model Relevant for Both Male and Female Mice
Published on: October 13, 2023
Pathology-supported genetic testing as a method for disability prevention in multiple sclerosis (MS). Part I.
Susan J van Rensburg1, Ronald van Toorn2, Rajiv T Erasmus3
1Division of Chemical Pathology, Department of Pathology, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa. sjvr@sun.ac.za.
Abstract:
In this Review (Part I), we investigate the scientific evidence that multiple sclerosis (MS) is caused by the death of oligodendrocytes, the cells that synthesize myelin, due to a lack of biochemical and nutritional factors involved in mitochondrial energy production in these cells. In MS, damage to the myelin sheaths surrounding nerve axons causes disruption of signal transmission from the brain to peripheral organs, which may lead to disability. However, the extent of disability is not deterred by the use of MS medication, which is based on the autoimmune hypothesis of MS. Rather, disability is associated with the loss of brain volume, which is related to the loss of grey and white matter. A pathology-supported genetic testing (PSGT) method, developed for personalized assessment and treatment to prevent brain volume loss and disability progression in MS is discussed. This involves identification of MS-related pathogenic pathways underpinned by genetic variation and lifestyle risk factors that may converge into biochemical abnormalities associated with adverse expanded disability status scale (EDSS) outcomes and magnetic resonance imaging (MRI) findings during patient follow-up. A Metabolic Model is presented which hypothesizes that disability may be prevented or reversed when oligodendrocytes are protected by nutritional reserve. Evidence for the validity of the Metabolic Model may be evaluated in consecutive test cases following the PSGT method. In Part II of this Review, two cases are presented that describe the PSGT procedures and the clinical outcomes of these individuals diagnosed with MS.
Insights
Multiple sclerosis (MS) may stem from oligodendrocyte death due to mitochondrial dysfunction, not just autoimmunity. Personalized genetic testing and nutritional support offer potential to prevent or reverse disability by protecting these vital cells.
Area of Science:
- Neuroscience
- Biochemistry
- Genetics
Background:
- Multiple sclerosis (MS) is characterized by myelin sheath damage, leading to neurological disability.
- Current MS treatments, based on the autoimmune hypothesis, do not prevent disability progression or brain volume loss.
- Disability in MS correlates with grey and white matter loss, indicating a need for alternative therapeutic targets.
Purpose of the Study:
- To investigate the hypothesis that oligodendrocyte death, due to impaired mitochondrial energy production, causes MS.
- To introduce a pathology-supported genetic testing (PSGT) method for personalized MS assessment and treatment.
- To present a Metabolic Model suggesting nutritional support can protect oligodendrocytes and prevent MS disability.
Main Methods:
- Review of scientific evidence linking oligodendrocyte death to mitochondrial dysfunction in MS.
- Description of the PSGT method for identifying MS-related genetic and lifestyle risk factors.
- Presentation of a Metabolic Model for MS treatment based on nutritional reserves.
Main Results:
- Evidence suggests MS pathology may involve oligodendrocyte death from mitochondrial energy deficits.
- The PSGT method integrates genetic, lifestyle, and biochemical factors to predict disability progression (EDSS) and MRI findings.
- The Metabolic Model posits that protecting oligodendrocytes with nutritional support can mitigate MS-related disability.
Conclusions:
- Oligodendrocyte death due to mitochondrial dysfunction is a plausible alternative hypothesis for MS.
- PSGT offers a personalized approach to managing MS by targeting underlying pathogenic pathways.
- Nutritional interventions, guided by the Metabolic Model and PSGT, hold promise for preventing or reversing MS disability.
Related Concept Videos
01:19Multiple Sclerosis l: Introduction
01:29Pharmacogenomics: Identification of New Drug Targets