Impact of MTHFR and RFC-1 gene in the development of neural tube defect

Journal of Cell and Molecular Research

مقاله 1، دوره 6، شماره 2 - شماره پیاپی 12، فروردین 2014، صفحه 103-104   

نوع مقاله: Letters / Commentaries

شناسه دیجیتال (DOI): 10.22067/jcmr.v6i2.35894

نویسندگان

Rinki Kumari^{* 1}؛ Aruna Agrawal¹؛ Om Prakash Upadhyaya¹؛ Gure Prit Inder Singh²؛ Govind Prasad Dubey¹

¹Banaras Hindu University

²Adesh University, India

چکیده

Neural tube defects (NTDs) are complex problem of central nervous system including brain and spinal cord. Anencephaly and myelomeningocele are the two most common forms of NTDs. Epidemiological studies reveal that genetic and environmental factors are responsible for the development of NTDs. During embryogenesis large numbers of extrinsic and intrinsic factors are responsible for the closer of neural tube which is responsible to maintain the three germ layers including neural ectoderm. The role of MTHFR & RFC-1 gene in etiopathology of NTDs has not been clearly defined in Indian population. Hence, the curiosity has been developed with the aim to evaluate folate metabolism and folate regulatory gene in clinically diagnosed NTDs by using PCR based DNA analysis with selected specific forward/reverse primers. Interestingly, the highest frequency (12.5%) of CT has been appeared of MTHFR C677T gene noticed in NTDs mother. We also observed the similar frequency of heterozygous AG genotype in NTDs of A80G RFC-1 gene. Therefore, C and A allele have high prevalence among than other genotype. However, the mutation in MTHFR partially have protective effect of embryo and these selected candidate folate markers are responsible to influence the cells of neural crest confirming the folding of neural tube associated with severity of disease in NTDs.

کلیدواژه‌ها

NTDs؛ MTHFR؛ RFC-1؛ Folate؛ Homocystine

مراجع

Botto L. D. and Yang Q. (2000) 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: A HuGE review. Am J Epidemiol 151: 862–877.

Chango A., Emery-Fillon N., de-Courcy G. P. (2000) A polymorphism (G80-A) in the reduced folate carrier gene and its associationswith folate status and homocysteinemia. Mol Genet Metab 70: 310–315.

Fiskeratrand T., Refsum H., Kvalheim G., Ueland P. M. (1993) Homocysteine and other thiols in plasma and urine: automated determination and sample stability. Cli Chem 39:263-71.

Frosst P., Blom H. J., Milos R., Goyette P., Sheppard C. A., Matthews R. G. (1995) A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 10: 111–3.

Goldman I. D., Lichtenstein N. S., Oliverio V. T. (1988) Carrier-mediated transport of the folic acid analogue, methotrexate, in L1210 leukemia. J Biol Chem 243: 5007–5017.

Wald N., Sneddon J., Densem J., Frost J., and Stone J. (1991) Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. Lancet 338: 131-137.