Background: Behçet's Disease (BD), a complex autoinflammatory disorder, is increasingly linked to microbial dysbiosis, yet the specific microbial signatures and their functional consequences remain incompletely characterized. Elucidating these alterations is crucial for understanding BD pathogenesis.
Objective: To identify distinct microbial community structures and functional potentials in supragingival plaque microbiomes of BD patients versus healthy controls (HC) using high-resolution shotgun metagenomic sequencing.
Amelogenesis imperfecta type 1G (AI1G), also known as Enamel-Renal-Gingival Syndrome (ERGS), is an autosomal recessive disorder caused by variants in FAM20A, encoding a Golgi apparatus protein crucial for protein processing and secretion. AI1G presents with enamel defects, nephrocalcinosis and gingival overgrowth. Building upon our previous findings demonstrating the impact of FAM20A insufficiency on deciduous dental pulp cells, this study investigated the molecular mechanisms underlying gingival fibromatosis in AI1G.
View Article and Find Full Text PDFIntroduction: Oral lichen planus (OLP) is a chronic inflammatory condition often associated with desquamative gingivitis (DG). The oral microbiome's role in OLP and DG (OLP-DG) is gaining recognition, but prior 16S rRNA studies lacked taxonomic resolution. This study introduced shotgun metagenomic sequencing to thoroughly compare the supragingival and subgingival plaque microbiomes of individuals with and without OLP-DG.
View Article and Find Full Text PDFInt Endod J
June 2024
Aim: Loss-of-function mutations in FAM20A result in amelogenesis imperfecta IG (AI1G) or enamel-renal syndrome, characterized by hypoplastic enamel, ectopic calcification, and gingival hyperplasia, with some cases reporting spontaneous tooth infection. Despite previous reports on the consequence of FAM20A reduction in gingival fibroblasts and transcriptome analyses of AI1G pulp tissues, suggesting its involvement in mineralization and infection, its role in deciduous dental pulp cells (DDP) remains unreported. The aim of this study was to evaluate the properties of DDP obtained from an AI1G patient, providing additional insights into the effects of FAM20A on the mineralization of DDP.
View Article and Find Full Text PDFObjectives: To identify etiologic variants and perform deep dental phenotyping in patients with amelogenesis imperfecta (AI).
Methods: Three patients of two unrelated families were evaluated. Genetic variants were investigated by exome and Sanger sequencing.
The molecular control of tooth development is different between the maxilla and mandible, contributing to different tooth shapes and locations; however, whether this difference occurs in human permanent teeth is unknown. The aim of this study was to investigate and compare the transcriptome profiles of permanent maxillary and mandibular posterior teeth. Ten participants who had a pair of opposing premolars or molars extracted were recruited.
View Article and Find Full Text PDF