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Preventing Multiple Sclerosis (MS) disability progression through early intervention.

In MS, the myelin surrounding the nerve axons is damaged due to the death of the cells that produce the myelin (oligodendrocytes), causing a malfunction in communication between your brain and your body. This can lead to a loss of movement, fatigue, loss of vision, and even pain in parts of the body.

Gknowmix GeneTalk would like to share the amazing story of Karen Nortje who was diagnosed with MS in 2006, at the same time that a scientific article was published by Prof Susan van Rensburg about the importance of nutritional support. A friend told her about this research and after a medical consultation, she decided to follow the Rapha Regimen program described in this article. Read more.

In the last 13 years, Karin has made a full recovery, lost 20 kilograms and finished three marathons and numerous shorter races. Watch the video below.

MULTIPLE SCLEROSIS RESEARCH

The positive effect of a healthy lifestyle and weight loss could partly be explained by the results of a previous research study performed in South Africa. We found that a subgroup of MS patients who inherited a genetic variation in the obesity-related FTO gene have raised homocysteine levels. The levels of this toxic amino acid correlated positively with body mass index (BMI) and total cholesterol levels. Daily intake of at least five fruits and vegetables had a favourable effect on the Expanded Disability Status Scale (EDSS). This novel finding is consistent with the role of FTO in demethylation and epigenetic changes and reinforces the importance of a healthy lifestyle to prevent or reduce the risk of MS disability. Read more.

A study by Gianfrancesco et al. (2016) has gone on to investigate the “Causal effect of genetic variants associated with BMI on MS susceptibility”.  Their findings confirmed an independent effect of FTO on MS susceptibility.

The presence of any of the multiple obesity-related gene variations identified in the human genome will not result in MS, but may affect the metabolic pathways involved in the development of MS that are mediated by a high BMI. This includes vitamin D status and chronic inflammation that also affects iron metabolism, providing another opportunity to reduce the risk, even in children with MS. Read more.

Demyelinating Diseases GeneScreen

At Gknowmix we offer the Demyelinating Diseases GeneScreen, which aims to identify a combination of genetic, biochemical and environmental factors associated with different subtypes of MS. The results could provide the information needed to improve quality of life at the individual level. While this screen cannot prevent or cure MS, it empowers patients with the expert knowledge to better manage their disease outcome in consultation with their doctor.

Do you still experience MS flare-ups? There is hope…
For more information or to find out how to get involved in the research, please visit www.brainbiochem.com.

The research started 20 years ago when Roberta (Bobbie) Rooney coined the phrase “hereditary biochemical multiple sclerosis (HBMS)” 1 to describe a subgroup of people with MS who had a chronic iron deficiency. This concept was later expanded to “Pathology-supported genetic testing (PSGT)”, when we realised that there were other subgroups who had different biochemical deficiencies that also caused demyelination, such as dysregulation of folate-vitamin B12 metabolism, which includes deficiencies of folate and/or vitamin B12 and high homocysteine.2,3 Vitamin D deficiency and obesity (which is linked to high cholesterol) are considered to be causal risk factors for MS.4   Vitamin D also reduces the concentration of hepcidin in the blood, a protein that inhibits iron absorption. Vitamin D deficiency therefore leads to iron deficiency.5

A combination of blood tests (listed below) available at most routine pathology laboratories are used together with genetic testing to take all these factors into account:

GENETIC PRE-SCREEN: Biochemistry Blood Test Panel
Full blood count & Diff
Serum iron
Transferrin
Transferrin saturation
Ferritin
C-reactive protein
Cholesterol 
Homocysteine
Serum Folate
Vitamin B12
Vitamin D

References

  1. Rooney RN, Kotze MJ, de Villiers JN, Hillermann R, Cohen JA. Multiple sclerosis, porphyria-like symptoms, and a history of iron deficiency anemia in a family of Scottish descent. Am J Med Genet. 1999;86:194-6.
  2. van Rensburg SJ, Kotze MJ, Hon D, Haug P, Kuyler J, Hendricks M, Botha J, Potocnik FC, Matsha T, Erasmus RT. Iron and the folate-vitamin B12-methylation pathway in multiple sclerosis. Metab Brain Dis. 2006;21:121-37.
  3. Davis W, van Rensburg SJ, Cronje FJ, Whati L, Fisher LR, van der Merwe L, Geiger D, Hassan MS, Matsha T, Erasmus RT, Kotze MJ. The fat mass and obesity-associated FTO rs9939609 polymorphism is associated with elevated homocysteine levels in patients with multiple sclerosis screened for vascular risk factors. Metab Brain Dis. 2014;29:409-19. doi: 10.1007/s11011-014-9486-7.
  4. Harroud A, Richards JB. Mendelian randomization in multiple sclerosis: A causal role for vitamin D and obesity? Mult Scler. 2018;24:80-85. doi: 10.1177/1352458517737373.
  5. Smith EM, Alvarez JA, Kearns MD, Hao L, Sloan JH, Konrad RJ, Ziegler TR, Zughaier SM, Tangpricha V. High-dose vitamin D3 reduces circulating hepcidin concentrations: A pilot, randomized, double-blind, placebo-controlled trial in healthy adults. Clin Nutr. 2017;36(4):980-985. doi: 10.1016/j.clnu.2016.06.015.