Folate cycle parameters in patients with joint hypermobility syndrome

Abstract

Object. To estimate folate cycle parameters in patients with joint hypermobility syndrome (JHS). Materials and methods. The group of patients with JHS consisted of 105 people (90 women and 15 men), the control group — 57 people (49 women and 8 men) aged 20 to 28 years (average age is 22 [21; 23] years). All persons underwent: general clinical examination; determination of levels of homocysteine, folic acid, vitamins В₆ and В₁₂ by enzyme immunoassay (“Fine Test” Wuhan Fine Biotech Co., China), determination of polymorphic variants of C677T, A1298C of the methylenetetrahydrofolate reductase (MTHFR) gene, which was carried out by polymerase chain reaction (“Syntol”, Russia). Results. In patients with JHS, there is a decreasing in levels of folic acid, vitamin В₁₂ compared to those in the control group, the obtained values of homocysteine and vitamin В6 were comparable in both groups. The frequency of mutations of the MTHFR gene among patients with JHS was: 38.6 % — allele 677T, 18.1 % — genotype 677TT, 36.2 % — allele 1298C, 17.1 % — genotype1298CC, for a group of practically healthy individuals: 33.3 % — allele 677T; 12.3 % — genotype 677TT, 31.6 % — allele 1298C, 17.1 % — genotype 1298CC. Patients with JHS, carriers of genotype 1298AA of the MTHFR gene have lower values of folic acid and vitamin В₁₂, carriers of CT+TT genotypes of the polymorphic locus C677T of the MTHFR gene have lower values of folic acid compared with carriers of these genotypes of the control group. Conclusion. The high prevalence of MTHFR gene polymorphism and decreasing of folic acid and vitamin В₁₂ levels in patients with JHS indicate a possible pathogenetic relationship between the studied parameters and this disease, which requires further study to form the principles of timely diagnostics and treatment.