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Genetic variants of homocysteine metabolism and multiple sclerosis: a case-control study

Benjamin V Ineichen1, Salla Keskitalo1, Melinda Farkas1

  • 1Department of Neurology, University Hospital Zurich, Zurich, Switzerland.

Neuroscience Letters
|January 14, 2014
PubMed

Insights

Genetic variants in cystathionine beta-synthase (CBS) and reduced folate carrier 1 (RFC1) are linked to an earlier age of onset for relapsing remitting multiple sclerosis (RRMS). This suggests potential therapeutic targets for RRMS.

Area of Science:

  • Neurogenetics
  • Metabolic pathways
  • Multiple Sclerosis

Background:

  • Methylenetetrahydrofolate reductase (MTHFR) is crucial for methionine and S-adenosylmethionine synthesis, vital for central nervous system (CNS) remyelination.
  • Previous studies linked the MTHFR c.1298A>C variant to relapsing-remitting multiple sclerosis (RRMS) in German populations.
  • The role of other methionine metabolism genetic variants in RRMS development and clinical course requires further investigation.

Purpose of the Study:

  • To investigate the association of additional genetic variants within the methionine metabolism pathway with the development of RRMS.
  • To determine if these genetic variants influence the clinical course, specifically the age of onset, of RRMS.

Main Methods:

  • Genotyping of 147 German RRMS patients and 147 matched healthy controls for five polymorphic variants in methionine metabolism.
  • Utilized multivariate binary and linear regression analyses to assess associations between genetic variants and RRMS.
  • Focused on variants including cystathionine beta-synthase (CBS) and reduced folate carrier 1 (RFC1).

Main Results:

  • The insertion allele of CBS c.844_855ins68bp was associated with an earlier age of MS onset (median 25-26 years vs. 32 years).
  • The G-allele of RFC1 c.80G>A was also linked to an earlier age of MS onset (median 29-31 years vs. 35 years).
  • These findings suggest potential gene-dose effects influencing the age of disease onset in RRMS.

Conclusions:

  • Mutant variants of CBS and RFC1 may be associated with the age of RRMS onset.
  • The study provides a rationale for exploring novel preventive and therapeutic strategies in RRMS.
  • Targeting methionine metabolism through vitamin and amino acid supplementation could be a future avenue for RRMS management.
Keywords:
Cystathionine beta-synthaseFolateHomocysteineMultiple sclerosisReduced folate carrier 1S-adenosylmethionine

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