Pathology-supported genetic testing as a method for disability prevention in multiple sclerosis (MS). Part II. Insights from two MS cases
Autor: | Rajiv T Erasmus, Aye Aye Khine, Ronald van Toorn, Kelebogile E Moremi, Mariaan Jaftha, Armand V. Peeters, Susan J van Rensburg, Coenraad J. Hattingh, Lindiwe Whati, Annalise E Zemlin, Felix Potocnik, Clint Johannes, Maritha J. Kotze, Penelope Engel-Hills, Merlisa C Kemp, Carel J. van Heerden |
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Rok vydání: | 2021 |
Předmět: |
0301 basic medicine
medicine.medical_specialty Expanded Disability Status Scale Neurology medicine.diagnostic_test Transferrin saturation business.industry Multiple sclerosis Bioinformatics medicine.disease Biochemistry 03 medical and health sciences Cellular and Molecular Neuroscience 030104 developmental biology 0302 clinical medicine Vitamin D and neurology Serum iron medicine Neurology (clinical) business 030217 neurology & neurosurgery Exome sequencing Genetic testing |
Zdroj: | Metabolic Brain Disease. 36:1169-1181 |
ISSN: | 1573-7365 0885-7490 |
Popis: | In Part I of this Review we evaluated the scientific evidence for a Metabolic Model of multiple sclerosis (MS). Part II outlines the implementation of an adaptive pathology-supported genetic testing (PSGT) algorithm aimed at preventing/reversing disability in two illustrative MS cases, starting with a questionnaire-based risk assessment, including family history and lifestyle factors. Measurement of iron, vitamin B12, vitamin D, cholesterol and homocysteine levels identified biochemical deficits in both cases. Case 1, after following the PSGT program for 15 years, had an expanded disability status scale (EDSS) of 2.0 (no neurological sequelae) together with preserved brain volume on magnetic resonance imaging (MRI). A novel form of iron deficiency was identified in Case 1, as biochemical testing at each hospital submission due to MS symptoms showed low serum iron, ferritin and transferrin saturation, while hematological status and erythrocyte sedimentation rate measurement of systemic inflammation remained normal. Case 2 was unable to walk unaided until her EDSS improved from 6.5 to 4.0 over 12 months after implementation of the PSGT program, with amelioration of her suboptimal biochemical markers and changes to her diet and lifestyle, allowing her to regain independence. Genotype-phenotype correlation using a pathway panel of functional single nucleotide variants (SNVs) to facilitate clinical interpretation of whole exome sequencing (WES), elucidated the underlying metabolic pathways related to the biochemical deficits. A cure for MS will remain an elusive goal if separated from nutritional support required for production and maintenance of myelin, which can only be achieved by a lifelong investment in wellness. |
Databáze: | OpenAIRE |
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