Currently available data on the aetiology of schizophrenia suggests a major involvement of epigenetic mechanisms. One such mechanism could be the alteration of activation and silencing of genes, which involves DNA methylation and de-methylation. The main limiting enzyme involved in the methyl-donor cycle is methylene-tetra-hydro-folate-reductase (MTHFR), and the most frequently observed mutation in the MTHFR gene, altering its activity, is the C677 T mutation.

In the present study, we investigated the frequency of MTHFR C677 T mutation and total plasma homocysteine (tHcy) concentrations in a sample of Romanian schizophrenia patients as compared to healthy controls.

Seventy schizophrenia patients (35% females) with a mean age of 38.8 ± 20.5 years and 50 healthy controls (50% females) with a mean age of 36.3 ± 11.6 years were included. MTHFR genotype was determined through polymerase chain reaction and tHcy levels were determined through reversed phase high-pressure liquid chromatography.

Schizophrenia patients, registered higher frequency of the T allele, with the CC genotype observed in 39.4% of them, as compared to a frequency of 60.6% in the control group (P = 0.002–Fisher's exact test). tHcy concentrations did not differ between the two groups (10.7 ± 4.2 vs. 11.2 ± 4.1, P > 0.005–Mann–Whitney U test).

Romanian schizophrenia patients have a significantly higher frequency of the MTHFR C677 T mutation, but without significant effect on tHcy concentrations.

The authors have not supplied their declaration of competing interest.