Spina Bifida: Pathogenesis, Mechanisms, and Genes in Mice and Humans

Overview

Journal Scientifica (Cairo)

Publisher Wiley

Specialty Biology

Date 2017 Mar 14

PMID 28286691

Citations 26

Authors

Siti W Mohd-Zin

Ahmed I Marwan

Mohamad K Abou Chaar

Azlina Ahmad-Annuar

Noraishah M Abdul-Aziz

Affiliations

Soon will be listed here.

Abstract

Spina bifida is among the phenotypes of the larger condition known as neural tube defects (NTDs). It is the most common central nervous system malformation compatible with life and the second leading cause of birth defects after congenital heart defects. In this review paper, we define spina bifida and discuss the phenotypes seen in humans as described by both surgeons and embryologists in order to compare and ultimately contrast it to the leading animal model, the mouse. Our understanding of spina bifida is currently limited to the observations we make in mouse models, which reflect complete or targeted knockouts of genes, which perturb the whole gene(s) without taking into account the issue of haploinsufficiency, which is most prominent in the human spina bifida condition. We thus conclude that the need to study spina bifida in all its forms, both aperta and occulta, is more indicative of the spina bifida in surviving humans and that the measure of deterioration arising from caudal neural tube defects, more commonly known as spina bifida, must be determined by the level of the lesion both in mouse and in man.

Citing Articles

Atypical Variants of Spinal Dysraphism: A Case Series.

Badejo O, Shokunbi M, Adeolu A, Oderinde I, Akinmoladun J, Ogbole G J West Afr Coll Surg. 2024; 15(1):118-126.

PMID: 39735810 PMC: 11676024. DOI: 10.4103/jwas.jwas_186_23.

Memory in Spina Bifida, from Childhood to Adulthood: A Systematic Review.

Amayra I, Ruiz de Lazcano A, Salgueiro M, Anguiano S, Urena M, Martinez O J Clin Med. 2024; 13(17).

PMID: 39274485 PMC: 11396768. DOI: 10.3390/jcm13175273.

Perioperative management of patients with spina bifida.

Hartigan S, Walsh B BJA Educ. 2024; 24(6):203-209.

PMID: 38764443 PMC: 11096439. DOI: 10.1016/j.bjae.2024.02.004.

Metabolomics of neurological disorders in India.

Gupta S, Sharma U Anal Sci Adv. 2024; 2(11-12):594-610.

PMID: 38715858 PMC: 10989583. DOI: 10.1002/ansa.202000169.

Evaluation of multidisciplinary high-risk pregnancy clinic for myelomeningocele.

Anderson L, Hopson B, Caudill C, Rocque B, Blount J, Arynchyna-Smith A Childs Nerv Syst. 2024; 40(8):2505-2514.

PMID: 38644383 PMC: 11269498. DOI: 10.1007/s00381-024-06337-4.

References

Nye J, Balkin N, Lucas H, Knepper P, McLone D, Charrow J . Myelomeningocele and Waardenburg syndrome (type 3) in patients with interstitial deletions of 2q35 and the PAX3 gene: possible digenic inheritance of a neural tube defect. Am J Med Genet. 1998; 75(4):401-8. View

Jin L, Zhang L, Li Z, Liu J, Ye R, Ren A . Placental concentrations of mercury, lead, cadmium, and arsenic and the risk of neural tube defects in a Chinese population. Reprod Toxicol. 2012; 35:25-31. DOI: 10.1016/j.reprotox.2012.10.015. View

Ulman C, Taneli F, Oksel F, Hakerlerler H . Zinc-deficient sprouting blight potatoes and their possible relation with neural tube defects. Cell Biochem Funct. 2004; 23(1):69-72. DOI: 10.1002/cbf.1172. View

Wen S, Lu W, Zhu H, Yang W, Shaw G, Lammer E . Genetic polymorphisms in the thioredoxin 2 (TXN2) gene and risk for spina bifida. Am J Med Genet A. 2009; 149A(2):155-60. PMC: 2970524. DOI: 10.1002/ajmg.a.32589. View

van der Linden I, den Heijer M, Afman L, Gellekink H, Vermeulen S, Kluijtmans L . The methionine synthase reductase 66A>G polymorphism is a maternal risk factor for spina bifida. J Mol Med (Berl). 2006; 84(12):1047-54. DOI: 10.1007/s00109-006-0093-x. View

Szymanski K, Misseri R, Whittam B, Yang D, Raposo S, King S . Quality of Life Assessment in Spina Bifida for Children (QUALAS-C): Development and Validation of a Novel Health-related Quality of Life Instrument. Urology. 2015; 87:178-84. DOI: 10.1016/j.urology.2015.09.027. View

Colas J, Schoenwolf G . Subtractive hybridization identifies chick-cripto, a novel EGF-CFC ortholog expressed during gastrulation, neurulation and early cardiogenesis. Gene. 2000; 255(2):205-17. DOI: 10.1016/s0378-1119(00)00337-1. View

Sin A, Rashidi M, Caldito G, Nanda A . Surgical treatment of myelomeningocele: year 2000 hospitalization, outcome, and cost analysis in the US. Childs Nerv Syst. 2007; 23(10):1125-7. DOI: 10.1007/s00381-007-0375-9. View

Elms P, Siggers P, Napper D, Greenfield A, Arkell R . Zic2 is required for neural crest formation and hindbrain patterning during mouse development. Dev Biol. 2003; 264(2):391-406. DOI: 10.1016/j.ydbio.2003.09.005. View

10.

Goumy C, Gay-Bellile M, Eymard-Pierre E, Kemeny S, Gouas L, Dechelotte P . De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palate. Birth Defects Res A Clin Mol Teratol. 2014; 100(6):507-11. DOI: 10.1002/bdra.23246. View

11.

Van Allen M, Kalousek D, Chernoff G, Juriloff D, Harris M, McGillivray B . Evidence for multi-site closure of the neural tube in humans. Am J Med Genet. 1993; 47(5):723-43. DOI: 10.1002/ajmg.1320470528. View

12.

Luo J, Balkin N, Stewart J, Sarwark J, Charrow J, Nye J . Neural tube defects and the 13q deletion syndrome: evidence for a critical region in 13q33-34. Am J Med Genet. 2000; 91(3):227-30. DOI: 10.1002/(sici)1096-8628(20000320)91:3<227::aid-ajmg14>3.0.co;2-i. View

13.

Miro X, Zhou X, Boretius S, Michaelis T, Kubisch C, Alvarez-Bolado G . Haploinsufficiency of the murine polycomb gene Suz12 results in diverse malformations of the brain and neural tube. Dis Model Mech. 2009; 2(7-8):412-8. DOI: 10.1242/dmm.001602. View

14.

van der Linden I, Nguyen U, Heil S, Franke B, Vloet S, Gellekink H . Variation and expression of dihydrofolate reductase (DHFR) in relation to spina bifida. Mol Genet Metab. 2007; 91(1):98-103. DOI: 10.1016/j.ymgme.2007.01.009. View

15.

Colas J, Schoenwolf G . Towards a cellular and molecular understanding of neurulation. Dev Dyn. 2001; 221(2):117-45. DOI: 10.1002/dvdy.1144. View

16.

Holmberg J, Clarke D, Frisen J . Regulation of repulsion versus adhesion by different splice forms of an Eph receptor. Nature. 2000; 408(6809):203-6. DOI: 10.1038/35041577. View

17.

Klootwijk R, Groenen P, Schijvenaars M, Hol F, Hamel B, Straatman H . Genetic variants in ZIC1, ZIC2, and ZIC3 are not major risk factors for neural tube defects in humans. Am J Med Genet A. 2003; 124A(1):40-7. DOI: 10.1002/ajmg.a.20402. View

18.

Fidas A, MACDONALD H, Elton R, Wild S, Chisholm G, Scott R . Prevalence and patterns of spina bifida occulta in 2707 normal adults. Clin Radiol. 1987; 38(5):537-42. DOI: 10.1016/s0009-9260(87)80150-2. View

19.

Auden A, Caddy J, Wilanowski T, Ting S, Cunningham J, Jane S . Spatial and temporal expression of the Grainyhead-like transcription factor family during murine development. Gene Expr Patterns. 2006; 6(8):964-70. DOI: 10.1016/j.modgep.2006.03.011. View

20.

Almeida L, Anyane-Yeboa K, Grossman M, Rosen T . Myelomeningocele, Arnold-Chiari anomaly and hydrocephalus in focal dermal hypoplasia. Am J Med Genet. 1988; 30(4):917-23. DOI: 10.1002/ajmg.1320300407. View