AI Article Synopsis
- - The study investigates genetic and epigenetic features of recurrent hydatidiform mole (RHM) in Japanese patients, focusing on four isolated cases using whole-exome sequencing and DNA analysis.
- - Researchers identified a new homozygous mutation in the NLRP7 gene in one patient, with findings showing that despite the biparental nature of the molar tissue, there was a complete loss of maternal DNA methylation in certain regions.
- - This research highlights the role of NLRP7 in the development of RHM and emphasizes the importance of DNA methylation in these cases, marking the first study of this kind within a Japanese ethnic context.
Article Abstract
Aim: This study aimed to clarify the genetic and epigenetic features of recurrent hydatidiform mole (RHM) in Japanese patients.
Methods: Four Japanese isolated RHM cases were analyzed using whole-exome sequencing. Villi from RHMs were collected by laser microdissection for genotyping and DNA methylation assay of differentially methylated regions (DMRs). Single nucleotide polymorphisms of PEG3 and H19 DMRs were used to confirm the parental origin of the variants.
Results: A novel homozygous nonsense mutation in NLRP7 (c.584G>A; p.W195X) was identified in 1 patient. Genotyping of one of her molar tissue revealed that it was biparental but not androgenetic in origin. Despite the fact that the RHM is biparental, maternally methylated DMRs of PEG3, SNRPN and PEG10 showed complete loss of DNA methylation. A paternally methylated DMR of H19 retained normal methylation.
Conclusions: This is the first Japanese case of RHM with a novel homozygous nonsense NLRP7 mutation and a specific loss of maternal DNA methylation of DMRs. Notably, the mutation was identified in an isolated case of an ethnic background that has not previously been studied in this context. Our data underscore the involvement of NLRP7 in RHM pathophysiology and confirm that DNA methylation of specific regions is critical.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1159/000441780 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Transcription factor MAZ activates the transcription of hypomethylated TYMP in ccRCC.
Funct Integr Genomics
January 2025
School of Medical Technology, Tianjin Medical University, Tianjin, 300203, China.
Clear cell renal cell carcinoma (ccRCC) is a highly malignant tumor characterized by a significant propensity for recurrence and metastasis. DNA methylation has emerged as a critical epigenetic mechanism with substantial utility in cancer diagnosis. In this study, multi-omics data were utilized to investigate the target genes regulated by the transcription factor MYC-associated zinc finger protein (MAZ) in ccRCC, leading to the identification of thymidine phosphorylase (TYMP) as a gene with notably elevated expression in ccRCC.
View Article and Find Full Text PDFEthnicity-specific patterns of epigenetic age acceleration in rheumatoid arthritis.
Geroscience
January 2025
Institute of Inflammation and Ageing, University of Birmingham, Birmingham, UK.
Rheumatoid arthritis (RA) is an age-related chronic inflammatory disease which may include accelerated biological ageing processes in its pathogenesis. To determine if increased biological age is associated with risk of RA and/or is present once disease is established. We used DNA methylation to compare biological age (epigenetic age) of immune cells in adults at risk of RA and those with confirmed RA, including twins discordant for RA.
View Article and Find Full Text PDFPreconceptional and Periconceptional Folic Acid Supplementation in the Visegrad Group Countries for the Prevention of Neural Tube Defects.
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 PDFEpigenetic Modulation with 5-Aza-CdR Prevents Metabolic-Associated Fatty Liver Disease Promoted by Maternal Overnutrition.
Nutrients
December 2024
Department of Nutrition, Texas A&M University, College Station, TX 77843, USA.
Background/objectives: This study builds on previous findings from mouse models, which showed that maternal overnutrition induced by a high-fat diet (HFD) promotes metabolic-associated fatty liver disease (MAFLD) in offspring, linked to global DNA hypermethylation. We explored whether epigenetic modulation with 5-Aza-CdR, a DNA methylation inhibitor, could prevent MAFLD in offspring exposed to maternal overnutrition.
Methods: The offspring mice from dams of maternal overnutrition were fed either a chow diet or a high-fat diet (HFD) for 10 weeks.
Depression and Accelerated Aging: The Eveningness Chronotype and Low Adherence to the Mediterranean Diet Are Associated with Depressive Symptoms in Older Subjects.
Nutrients
December 2024
Department of Preventive Medicine and Public Health, School of Medicine, University of Valencia, 46010 Valencia, Spain.
Background And Objectives: Depression often results in premature aging, which increases the risk of other chronic diseases, but very few studies have analyzed the association between epigenetic biomarkers of aging and depressive symptoms. Similarly, limited research has examined the joint effects of adherence to the Mediterranean diet (MedDiet) and chronotype on depressive symptoms, accounting for sex differences. Therefore, these are the objectives of our investigation in a Mediterranean population at high cardiovascular risk.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!