RELATIONSHIP BETWEEN METHYLENE TETRA HYDRO FOLATE REDUCTASE (MTHFR) GENE POLYMORPHISM AND HYPERHOMOCYSTEINEMIA IN STROKE

  • I Gde Raka Widiana
  • Tianing -
  • Anwar Santoso
  • Gusti Ngurah Ketut Budiarsa

Abstract

Cardiovascular disease is a major cause of mortality in Indonesia. Hyperhomocysteinemia (hyper-hcy) is
an independent cardiovascular risk factor, which may be due to methylene tetrahydrofolate reductase (MTHFR)
deficiency, frequently linked to MTHFR gene mutation. This case-control study examined the relationship
between homocysteine (hcy), folate, and vitamin B12 plasma concentrations with C677T mutation of MTHFR
gene among 20 haemorrhagic and non-haemorrhagic stroke patients aged 18-55 years, in Sanglah Hospital,
Denpasar. 10 age-matched controls were selected via random sampling of 1 of 4 neighbours; all subjects were
Balinese. Hyper-hcy (X2: 5.4; PR: 1.8; 95% CI: 1.0-2.7; p=0.03), hypertension (X2: 13.12; PR 2.66; 95%CI
1.41 to 5.02; p=0.00) were associated with increased risk of stroke. There were no significant correlation
between plasma hcy levels and plasma folate and vitamin B12 levels as co-factors of hcy metabolism. Low
plasma vitamin B12, smoking, alcohol drinking, and hypertension tend to be determinant factors of hyper-hcy.
This study found no mutation on 677 from C to T (C677T), however there were substitution in nucleotides
among stroke and controls, with or without producing chances of amino acids, including: 1) G659A substitution
that caused changing in amino acid from glutamine to glycine found in 1 stroke patients with hyper-hcy; 2)
A660G substitution that cause changing in amino acid from glutamine to glycine found among all control
subjects and among 3 stroke patients, one of whom had hyper-hcy; and 3) A661G substitution that cause
changing in amino acid from lysine to glutamine found in one stroke patients with normo-hcy. Some variations
were also found in nucleotide 659 and 660, however, did not produce changing in amino acid. Whether this
substitution is a kind of polymorphism that specific to Balinese ethnicity needs a further study to answer.

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Author Biographies

I Gde Raka Widiana
Biomolecular Unit,Department of Neurology Faculty of Medicine University of Udayana Denpasar Bali
Tianing -
Biomolecular Unit,Department of Neurology Faculty of Medicine University of Udayana Denpasar Bali
Anwar Santoso
Biomolecular Unit,Department of Neurology Faculty of Medicine University of Udayana Denpasar Bali
Gusti Ngurah Ketut Budiarsa
Department of Neurology Faculty of Medicine University of Udayana Denpasar Bali
How to Cite
RAKA WIDIANA, I Gde et al. RELATIONSHIP BETWEEN METHYLENE TETRA HYDRO FOLATE REDUCTASE (MTHFR) GENE POLYMORPHISM AND HYPERHOMOCYSTEINEMIA IN STROKE. journal of internal medicine, [S.l.], nov. 2012. Available at: <https://ojs.unud.ac.id/index.php/jim/article/view/3833>. Date accessed: 02 nov. 2024.
Section
Articles

Keywords

methylene tetra hydro folate reductase (MTHFR), gene polymorphism and hyperhomocysteinemia, stroke

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