The emerging role of epigenetic mechanisms in the etiology of neural tube defects

Greene, Nicholas D. E.; Stanier, Philip; Moore, Gudrun E.

doi:10.4161/epi.6.7.16400

Cited by 76 publications

(71 citation statements)

References 116 publications

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“…12,21 The findings in our study suggest a complex genetic relationship with the development of neural tube defects that may reflect the role of epigenetics in this phenomenon. Our study supports previous claims that defining epigenetic mechanisms and gene profiling will help identify parents at increased risk.…”

Section: Discussionmentioning

confidence: 53%

Surveillance survey of family history in children with neural tube defects

Dupépé¹,

Patel²,

Rocque

et al. 2017

PED

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OBJECTIVE Although there are known risk factors for the development of neural tube defects (NTDs), little is known regarding the role of family history. The authors' goal in this study is to describe the family history in their population of patients with NTDs. METHODS Surveys were completed for 254 patients who were accompanied by their biological mother during their annual visit to the multidisciplinary Spina Bifida Clinic at Children's of Alabama. An NTD has been diagnosed in all patients who are seen in this clinic (myelomeningocele, lipomeningocele, split cord malformation, and congenital dermal sinus tract). Each mother answered questions regarding known NTD risk factors and their pregnancy, as well as the family history of NTDs, other CNS disorders, and birth defects. RESULTS The overall prevalence of family history of NTDs in children with an NTD was 16.9% (n = 43), of which 3.1% (n = 8) were in first-degree relatives. In patients with myelomeningocele, 17.7% (n = 37) had a positive family history for NTDs, with 3.8% in first-degree relatives. Family history in the paternal lineage for all NTDs was 8.7% versus 10.6% in the maternal lineage. Twenty-two patients (8.7%) had a family history of other congenital CNS disorders. Fifteen (5.9%) had a family history of Down syndrome, 12 (4.7%) had a family history of cerebral palsy, and 13 (5.1%) patients had a family history of clubfoot. Fourteen (5.5%) had a family history of cardiac defect, and 13 (5.1%) had a family history of cleft lip or palate. CONCLUSIONS The family history of NTDs was 16.9% in children with NTD without a difference between maternal and paternal lineage. This high rate of positive family history suggests that genetics and epigenetics may play a larger role in the pathogenesis of NTD in the modern era of widespread folate supplementation.

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Section: Discussionmentioning

confidence: 53%

Surveillance survey of family history in children with neural tube defects

Dupépé¹,

Patel²,

Rocque

et al. 2017

PED

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“…transportation, accessibility 176). Other factors include financial concerns including lack of health insurance 177, lack of job training and vocational rehabilitation services, employment discrimination, stigmas related to physical appearance, and a lack of autonomy-related socialization during early childhood 173, 178, 179.…”

Section: Quality Of Lifementioning

confidence: 99%

Spina bifida

Copp

Adzick

Chitty

et al. 2015

Nat Rev Dis Primers

552

432

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Spina bifida is a birth defect in which the vertebral column is open (bifid), often with spinal cord involvement. Clinically most significant is myelomeningocele (MMC; open spina bifida) in which the spinal neural tube fails to close during embryonic development. The exposed neural tissue degenerates in utero, resulting in neurological deficit that varies with level of the lesion. Occurring in around 1 per 1000 births worldwide, MMC is one of the commonest congenital malformations, yet its causation is largely unknown. The genetic component of MMC is estimated at 60-70% but few genes have yet been identified, despite much information from mouse models. Non-genetic risk factors include reduced folate intake, maternal anticonvulsant therapy, diabetes mellitus and obesity. Primary prevention by peri-conceptional folic acid has been demonstrated in clinical trials, leading to food fortification programmes in many countries. Prenatal diagnosis is by ultrasound enabling termination of pregnancy. Individuals who survive to birth have their lesions closed surgically, with subsequent management of associated defects, including the Chiari II malformation, hydrocephalus, and urological and orthopaedic sequelae. Fetal surgical repair of MMC has been associated with improved early neurological outcome compared with postnatal operation. MMC affects quality of life during childhood, adolescence, and into adulthood, posing a challenge for individuals, families and society as a whole.

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“…It is an essential cofactor in folate-mediated one-carbon metabolism and in the epigenetic regulation of the transcription of genes that control neural closure [2]. …”

Section: Folic Acid and Neural Tube Defectsmentioning

confidence: 99%

Folic Acid Supplementation: What is New? Fetal, Obstetric, Long-Term Benefits and Risks

et al. 2016

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The association between folic acid supplementation, prior to conception and/or during pregnancy and pregnancy outcomes, has been the subject of numerous studies. The worldwide recommendation of folic acid is at least 0.4 mg daily for all women of reproductive age, and 4–5 mg in high-risk women. In addition, evidence shows that folic acid supplementation could modulate other adverse pregnancy outcomes, specifically, in pregnancies complicated by seizure disorders, preeclampsia, anemia, fetal growth restriction and autism. This review summarizes the available national and international guidelines, concerning the indications and dosage of folic acid supplementation during pregnancy. In addition, it describes the potential preventive benefits of folic acid supplementation on multiple maternal and fetal outcomes, as well as potential risks.

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The emerging role of epigenetic mechanisms in the etiology of neural tube defects

Cited by 76 publications

References 116 publications

Surveillance survey of family history in children with neural tube defects

Surveillance survey of family history in children with neural tube defects

Spina bifida

Folic Acid Supplementation: What is New? Fetal, Obstetric, Long-Term Benefits and Risks

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