Genetic studies of myelomeningocele
Kazuaki Shimoji1, Takaoki Kimura, Akihide Kondo
1Department of Neurosurgery, Juntendo University School of Medicine, 2-1-1, Hongo, Bunkyo-ku, Tokyo 113-8421, Japan. shimoji@juntendo.ac.jp
Insights
Myelomeningocele, a neural tube defect (NTD), results from disrupted embryonic development. While folic acid and fortification help, they don't eliminate risk, necessitating further research into genetic factors.
Area of Science:
- Developmental Biology
- Genetics
- Public Health
Background:
- Myelomeningocele is a significant congenital central nervous system malformation.
- It arises from a failure in neural tube closure during early gestation (3-4 weeks).
Purpose of the Study:
- To review the genetic etiology of myelomeningocele.
- To explore candidate genes in folate and glucose metabolism.
- To discuss animal models and microRNA studies related to neural tube defects (NTDs).
Main Methods:
- Literature review of genetic factors in NTDs.
- Analysis of candidate genes involved in folate and glucose metabolism.
- Examination of animal models and microRNA research.
Main Results:
- Folic acid and fortification have reduced NTD incidence but not eliminated risk.
- Candidate gene studies focus on folate and glucose metabolic pathways.
- MicroRNAs are emerging as a factor in NTD development.
Conclusions:
- A multidisciplinary approach is crucial for managing myelomeningocele.
- Understanding genetic and molecular factors is key to further risk reduction.
- Continued research into metabolic pathways and microRNAs is vital.
Introduction:
Myelomeningocele is one of the major congenital malformations involving the central nervous system. It is caused by a disruption of the neural tube closure, which is completed at 3-4 weeks of gestation.
Discussion:
Multidisciplinary approach is necessary to treat and support this malformation which is a huge burden to the patient, family, and the society. This is a characteristic anomaly that it is known that taking folic acid during the periconceptional period, it is possible to reduce the risk of having a neural tube defect (NTD). Although folate fortification had dramatically reduced the incidence, it was not possible to diminish the risk. To date, many studies have been conducted focusing on candidate genes related to folate and glucose metabolism. We will describe a brief review of genetic etiology of candidate genes of metabolic pathways of folate and glucose, animal models of NTDs, and finally recent studies of microRNA.
