Prognostic and predisposing risk factors for perinatal pathology in women with various forms of hyperhomocysteinemia

Abstract

This article shows that folate therapy being carried out since the dispensary registration of women does not prevent the formation of neural tube defects. The determinationof prognostic significance and significance of predisposing risk factors allows predicting the type of hyperhomocysteinemia and its risks. It has been revealed that in case of the congenital form of hyperhomocysteinemia there is a combination with such forms of thrombophilia as the G1691A mutation of the factor V gene (factor V Leiden), the G20210A mutation of the prothrombin gene, PAI-1 gene mutation (5G > 4G). Thus, if congenital hyperhomocysteinemia is diagnosed or may be prognosed, the markers of genetic thrombophiliae should bedetected and the hemostatic system should be investigated. Considering the early formation of defects, the correction, must begin since a pregravid stage, taking into account the detected combinations with changes in the hemostatic system

Keywords

congenital / acquired form of hyperhomocysteinemia / congenital malformations / prognostic risk factors

References

[1] Володин Н. Н. Перинатальная неврология — проблемы и пути решения // Журн. неврологии и психиатрии им. С. С. Корсакова. — 2009. — № 10. — С. 4–8.

[2] Макацария А. Д., Бицадзе В. О. Принципы профилактики развития дефектов нервной трубки плода // Фарматека. — 2007. — № 1. — C. 26–28.

[3] A new 19 bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR) — a risk factor for spina bifida acting in mothers during pregnancy? / Johnson W. G. [et al.] // Am. J. Med. Genet A. — 2004. — Vol.124. — P. 339–345.

[4] Association of maternal polymorphisms in folate metabolizing genes with chromosome damage and risk of Down syndrome offspring / Coppedе F. [et al.] // Neurosci Lett. — 2009. — Vol. 449. — P. 15–19.

[5] Bower C. Mandatory fortification of flour with folic acid to prevent neural-tube defects // Womens Health. — 2007. — Vol. 3, N 3. — P. 309–314.

[6] Kronenberg G., Colla M., Endres M. Folic acid, neurodegenerative and neuropsychiatric disease // Curr. Mol. Med. — 2009. — Vol. 9, N 3. — P. 315–323.

[7] Maternal folate, vitamin B12 and homocysteine levels in pregnancies affected by congenital malformations other than neural tube defects / Sutton M. [et al.] // Birth Defects Research. Part A, Clinical And Molecular Teratology. — 2011. — Vol. 91.— P. 610–615.

[8] Mattson M. P., Shea T. B. Folate and homocysteine metabolism in neural plasticity and neurodegenerative disorders // Trends Neurosci. — 2003. — Vol. 26. — P. 137–146.

[9] Synergism in hyperhomocysteinemia and diabetes: role of PPAR gamma and tempol / Mishra P.K. [et al.] // Cardiovascular Diabetology. — 2010. — Vol. 9. — P. 49.

[10] The risk of venous and arterial thrombosis in hyperhomocysteinaemia is low and mainly depends on concomitant thrombophilic defects / Lijfering W. M. [et al.] // Thromb. Haemost. — 2007. — Vol. 98. — P. 457–463.

[11] Two cardiovascular risk factors in one? Homocysteine and its relation to glomerular filtration rate. A meta-analysis of 41 studies with 27 000 participants / Kielstein J. T. [et al.] // Kidney Blood Press Res. — 2008. — Vol. 31. — P. 259– 367.

[12] Vitamin B-12 status, particularly holotranscobalamin II and methylmalonic acid concentrations, and hyperhomocysteinemia in vegetarians / Herrmann W. [et al.] // Am. J. Clin. Nutr. — 2003. — Vol. 78, N 1. — P. 131–136.

[13] Wang X., Wu X., Liang Z. A comparison of folic acid deficiency-induced genomic instability in lymphocytes of breast cancer patients and normal non-cancer controls from a Chinese population in Yunnan // Mutagenesis. — 2005. — Vol. 21, N 1. — P. 41–47.

RIGHTS & PERMISSIONS

Guryeva V.A., Kostkina Y.M.