Neural tube defects: Sex ratio changes after fortification with folic acid

Poletta, Fernando A.; Rittler, Mónica; Saleme, César; Campaña, Hebe; Gili, Juan Antonio; Pawluk, Mariela Soledad; Giménez, Lucas Gabriel; Cosentino, Viviana; Castilla, Eduardo E.; López-Camelo, Jorge S.

doi:10.1371/journal.pone.0193127

Cited by 31 publications

(32 citation statements)

References 39 publications

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“…Human craniorachischisis may also exhibit an excess of females; no sex data are available for mouse mutants with craniorachischisis [ 166 ]. Spina bifida as a whole generally does not exhibit female excess in humans or mice [ 166 ], although the subtype located in the upper spine may do so [ 167 ]. Previously, 12 mouse mutants and strains for which sex had been reported showed an excess of females among exencephalics [ 166 ].…”

Section: The Cranial Neural Tubementioning

confidence: 99%

“…There is an interesting interaction between embryo gender and the preventative effects of folate on human NTD. In at least three populations from Chile, Argentina and Canada, the female excess among anencephalic births disappeared soon after the start of folic acid fortification of wheat flour [ 167 , 178 ]. Prior to folate supplementation, anencephalic births in each country exhibited the typical excess of females, where almost two-thirds of anencephalic births were female.…”

Section: The Cranial Neural Tubementioning

confidence: 99%

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Insights into the Etiology of Mammalian Neural Tube Closure Defects from Developmental, Genetic and Evolutionary Studies

Juriloff

Harris

2018

JDB

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The human neural tube defects (NTD), anencephaly, spina bifida and craniorachischisis, originate from a failure of the embryonic neural tube to close. Human NTD are relatively common and both complex and heterogeneous in genetic origin, but the genetic variants and developmental mechanisms are largely unknown. Here we review the numerous studies, mainly in mice, of normal neural tube closure, the mechanisms of failure caused by specific gene mutations, and the evolution of the vertebrate cranial neural tube and its genetic processes, seeking insights into the etiology of human NTD. We find evidence of many regions along the anterior–posterior axis each differing in some aspect of neural tube closure—morphology, cell behavior, specific genes required—and conclude that the etiology of NTD is likely to be partly specific to the anterior–posterior location of the defect and also genetically heterogeneous. We revisit the hypotheses explaining the excess of females among cranial NTD cases in mice and humans and new developments in understanding the role of the folate pathway in NTD. Finally, we demonstrate that evidence from mouse mutants strongly supports the search for digenic or oligogenic etiology in human NTD of all types.

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Section: The Cranial Neural Tubementioning

confidence: 99%

Section: The Cranial Neural Tubementioning

confidence: 99%

Insights into the Etiology of Mammalian Neural Tube Closure Defects from Developmental, Genetic and Evolutionary Studies

Juriloff

Harris

2018

JDB

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“…It has been recommended that adults consume 400 mg of folate from foods or dietary supplements daily with pregnant women needing as much as 600 mg daily [158]. Folates are essential coenzymes and a folate deficiency during pregnancy can cause neural tube defects (NTDs) in infants (i.e., spina bifida and anencephaly) and megaloblastic anemia [159][160][161]. In adults, folate deficiency has been associated with an increased risk of cardiovascular and coronary diseases, some forms of cancers and a loss of cognitive function [162,163].…”

Section: Genetic Manipulation Of Folate (Vitamin B 9 ) Accumulationmentioning

confidence: 99%

Genetic Engineering for Global Food Security: Photosynthesis and Biofortification

Simkin

2019

Plants

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Increasing demands for food and resources are challenging existing markets, driving a need to continually investigate and establish crop varieties with improved yields and health benefits. By the later part of the century, current estimates indicate that a >50% increase in the yield of most of the important food crops including wheat, rice and barley will be needed to maintain food supplies and improve nutritional quality to tackle what has become known as ‘hidden hunger’. Improving the nutritional quality of crops has become a target for providing the micronutrients required in remote communities where dietary variation is often limited. A number of methods to achieve this have been investigated over recent years, from improving photosynthesis through genetic engineering, to breeding new higher yielding varieties. Recent research has shown that growing plants under elevated [CO2] can lead to an increase in Vitamin C due to changes in gene expression, demonstrating one potential route for plant biofortification. In this review, we discuss the current research being undertaken to improve photosynthesis and biofortify key crops to secure future food supplies and the potential links between improved photosynthesis and nutritional quality.

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“…The posterior spinal defects (e.g., spina bifida) can result in paralysis and sensation loss of the lower limbs, ambulation difficulties, bowel and bladder dysfunction, cognitive deficits, and associated infections and treatment‐related complications. Mandatory fortification of the food supply with folic acid in the United States and elsewhere has resulted in decreases in NTD rates (De Wals et al, ; Poletta et al, ; Williams et al, ), but the prevalence is still high (~2 per 1,000 live births, globally; Blencowe, Kancherla, Moorthie, Darlison, & Modell, ). Major ongoing research initiatives include studies aimed at identifying genetic risk factors for NTDs, understanding the mechanisms that explain epidemiologic associations (e.g., with maternal diabetes, Hispanic ethnicity, and body mass index), and understanding the determinants and modifiers of spina bifida morbidity and mortality.…”

mentioning

confidence: 99%