Folate metabolism and the risk of Down syndrome

Functional Inference of Methylenetetrahydrofolate Reductase Gene Polymorphisms on Enzyme Stability as a Potential Risk Factor for Down Syndrome in Croatia

“…In addition to the genotype, the information regarding personal folate status is important because the postulated risk for DS is expected if the woman has an unstable form of the MTH-FR enzyme and low folate status at the same time. To further resolve the problem, the impact of folate status on MTHFR enzyme configurations should be investigated, not in mothers who have a DS child, but in her mother [9,23,25]. Unfortunately, this information is essentially impossible to obtain.…”

“…First, we had an age-matched case-control study with absolute uniformity in ethnicity, and the control mothers had a negative personal and family history. The variation in allele or genotype frequencies among different populations due to ethnic variability or different stratification in the case-control study design is always emphasized [9,25,40].…”

Folate and Prevention of Neural Tube Disease

“…As folate plays an essential role in cellular division, pregnancy doubles the need of dietary folates (Forssen et al, 2000;Patterson et al, 2008). Pregnancy is associated with a marked acceleration in 1-carbon transfer reactions, including those required for nucleotide synthesis and thus cell division, which is the basis for the substantial increase in folate requirements during pregnancy.…”

“…Besides, a good number of studies indicate that folic acid could potentially reduce the risk of miscarriage (George et al, 2002). Also reports are there which shows that folic acid supplementation before conception may potentially reduce the frequency of Down's syndrome (James et al, 1999;Barkai et al, 2003;Patterson, 2008).…”

Use of folic acid during pregravid preparation and pregnancy

“…Данные Национального Итальянского института здоровья под-тверждают, что прием 400 мкг/сут фолиевой кислоты до беременности и во время нее уменьшает частоту анома-лий эмбриогенеза мозга, сердца, мочевыделительной си-стемы, образования расщелины верхнего неба, дефектов конечностей, дефектов больших артерий и омфалоцеле -пупочной грыжи [37]. Добавки фолиевой кислоты со-кращают риск развития синдрома Дауна [38,39], врож-денных пороков сердца, челюстно-лицевых дефектов [40]. Экспериментальные исследования [41] свидетельствуют о свойствах фолиевой кислоты предотвращать развитие врожденных пороков у мышей с моделью сахарного диа-бета.…”