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Volume 05
Neonatal and Pediatric Medicine
ISSN: 2572-4983
World Pediatrics 2019
December 04-05, 2019
December 04-05, 2019 | Barcelona, Spain
32
nd
World Pediatrics Conference
Study of certain genetic polymorphisms of folate and homocysteine metabolism and neural tube defects
Abbas Amel
University of Ouargla, Algeria
N
eural tube defects (NTDs) represent a major cause of infant mortality among congenital malformations whose
pathogenesis remains poorly understood. In this study realized on an Algerian population, we investigated the
frequency of many polymorphisms involved in the of folate/homocysteine metabolism, their possible contribution in the
etiology of NTDs, as well as their influence on folate and homocysteine concentrations.
The study involved children with NTD, mothers who had a child with NTD and a control population. The mutations were
determinedbythePCR/RFLPmethodwhiletheassayofthebiochemicalparameterswasperformedbychemiluminescence.
The analysis of genetic polymorphisms has shown that C677T polymorphism in MTHFR gene affects homocysteine
metabolism in mothers of NTD cases leading to homocysteine concentration values higher in mothers with TT genotype
of the C677T (p < 0.05).
For the polymorphism A2756G of the MTR gene, although, its association with NTD risk appears to be negative, It was
found to decrease the RBC folate level strengthen the contribution of A2756Gmutation in NTDs occurrence (p <0.05).
The major challenge remains translating study observations into a clinical setting such as gene screening in women before
pregnancy, to identify predisposition and seek targeted prevention. Measurement of homocysteine concentration may
also be a useful indicator of the need for pre-conception intervention. There is optimism that food is an element on which
intervention possibilities exist.
Neonat Pediatr Med 2019, Volume: 05