LUZP is a leucine zipper-containing protein predominantly expressed in the brain. The functional significance of LUZP remains unknown. To explore the role of LUZP in brain development, a knockout mouse strain with a lacZ knock-in (Luzp-KO/lacZ-KI) has been established. LacZ reporter expression driven by the endogenous Luzp promoter was detected in the neuroepithelium and the cardiac tissue. Luzp(-/-) mice exhibited perinatal death, presumably due to the accompanied complex cardiovascular defects. Luzp(-/-) embryos displayed a cranial neural tube closure defect (NTD), with exposed brain tissues. Ectopic expression of Sonic-hedgehog, which is a protein known to be involved in neural tube closure, and elevated apoptosis were observed in the dorsal lateral neuroepithelium of the NTD Luzp(-/-) hindbrain. These findings assign a novel function of LUZP in the embryonic development of brain.
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http://dx.doi.org/10.1016/j.bbrc.2008.08.170 | DOI Listing |
Childs Nerv Syst
January 2025
Department of Global Health, Faculty of Health Sciences, McMaster University, 1280 Main St W, Hamilton, ON, L8S 4L8, Canada.
Background: A giant encephalocele associated with Chiari malformation is a rare congenital anomaly from a cephalad neural tube defect. Early prenatal diagnosis and parental counseling are essential; as early surgical intervention can improve outcomes.
Methods: Between 2010 and 2023, twenty-seven newborns out of 43,815 delivered at our institution were diagnosed with encephaloceles, including seven cases of giant encephalocele associated with Chiari malformation type III.
Nutrients
December 2024
2nd Department of Gynecology and Obstetrics, University Hospital Bratislava and Comenius University, 821 01 Bratislava, Slovakia.
Neural tube defects (NTDs) are malformations of the central nervous system that represent the second most common cause of congenital morbidity and mortality, following cardiovascular abnormalities. Maternal nutrition, particularly folic acid, a B vitamin, is crucial in the etiology of NTDs. FA plays a key role in DNA methylation, synthesis, and repair, acting as a cofactor in one-carbon transfer reactions essential for neural tube development.
View Article and Find Full Text PDFCureus
December 2024
Gynecology and Obstetrics Department, Unidade Local de Saúde de Viseu Dão-Lafões, Viseu, PRT.
Iniencephaly is a rare malformation of the base of the cranium, with an almost always fatal prognosis. This condition is part of the category of defects related to neural tube closure. Prenatal diagnosis can now be performed through ultrasound evaluation, allowing timely counseling.
View Article and Find Full Text PDFPLoS One
January 2025
Department of Genetics, National Institute of Medical Sciences and Nutrition Salvador Zubirán (INCMNSZ), Mexico City, Mexico.
Myelomeningocele (MMC) is the most severe and disabling form of spina bifida with chronic health multisystem complications and social and economic family and health systems burden. In the present study, we aimed to investigate the genetic risk estimate for MMC in a cohort of 203 Mexican nuclear families with discordant siblings for the defect. Utilizing a custom Illumina array, we analyzed 656 single nucleotide polymorphisms (SNPs) of 395 candidate genes to identify a polygenic risk profile for MMC.
View Article and Find Full Text PDFAfr J Reprod Health
December 2024
Department of Medical Laboratory Technology, College of Nursing and Health Sciences, Jazan University, Jazan, Saudi Arabia.
Folic acid (FA) plays a crucial role in various biological processes. Insufficient intake of FA during pregnancy can lead to serious clinical complications, including neural tube defect. The current study sought to assess the awareness, knowledge, and usage of FA among young females in Jazan region of Saudi Arabia.
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