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.
Highlights
Spina bifida is the most common and complex central nervous system malformation in humans
This review paper aims to probe spina bifida, the surviving form of neural tube defects, closely and to analyze the relationship of what can be learnt from the mouse model of spina bifida and to use that knowledge in order to shine a brighter understanding with regard to the human form
The idea of gene-gene interaction which promotes heterogeneity among genes is incomplete without considering the idea of haploinsufficiency of genes, where many mutations in mankind are somehow protected from having a deleterious phenotype by having other genes compensate the job of the gene or genes being perturbed
Summary
Spina bifida is the most common and complex central nervous system malformation in humans. Management of these patients involves various disciplines to ensure the best possible outcome achieved and provide a good quality of life for its patients [1, 2]. The study of this condition is extremely relevant in that even in the 20 years since the discovery of the benefits of folic acid this condition is highly prevalent around the world and its occurrence does not seem to decrease [3]. This review paper intends to compare and contrast spina bifida in humans and spina bifida in the mouse, which is the leading animal model of this devastating condition in light of the information studies on animal models have shed on the human counterpart [4,5,6]
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