Publications by authors named "Paula Andrea Pimienta Ramirez"
Folate deficiency contribute to neural tube defects (NTDs) which could be rescued by folate supplementation. However, the underlying mechanisms are still not fully understood. Besides, there is considerable controversy concerning the forms of folate used for supplementation.
View Article and Find Full Text PDFBackground: Congenital anomalies are the fifth most common cause of neonatal mortality in Nicaragua, and neural tube defects (NTDs) are the most common of all cases of lethality associated with a birth defect. Prevalence and mortality estimates are needed to propose effective intervention strategies that prevent NTDs over time.
Methods: A cross-sectional study was carried out in northwestern Nicaragua from January 2006 to December 2018.
Article Synopsis
- - The study investigates the genetic causes of cerebral folate deficiency (CFD) by analyzing exome sequencing results from 48 patients to identify potential variants associated with the condition.
- - Researchers found six variants in five patients, impacting the KDM6B protein and leading to changes in histone modifications and reduced FOLR1 protein levels, which are critical for folate transport.
- - The findings suggest that the identified gene may be a new candidate linked to CFD, potentially lowering FOLR1 expression and increasing the risk for developing FOLR1 autoantibodies in affected individuals.
Neural tube defects (NTDs) are congenital malformations resulting from abnormal embryonic development of the brain, spine, or spinal column. The genetic etiology of human NTDs remains poorly understood despite intensive investigation. CIC, homolog of the Capicua transcription repressor, has been reported to interact with ataxin-1 (ATXN1) and participate in the pathogenesis of spinocerebellar ataxia type 1.
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