Department of Dentistry, Faculty of Health Sciences, University of Brasilia, Brasília, Brazil.
Periodontology Research Group, Specialized Center in Periodontology and Implantology, Brasília, Brazil.
Front Cell Infect Microbiol. 2021 Aug 26;11:720790. doi: 10.3389/fcimb.2021.720790. eCollection 2021.
Papillon-Lefèvre syndrome (PLS) is an autosomal recessive rare disease, main characteristics of which include palmoplantar hyperkeratosis and premature edentulism due to advanced periodontitis (formerly aggressive periodontitis). This study aimed to characterize the oral phenotype, including salivary parameters, and the salivary microbiome of three PLS sisters, comparatively. Two sisters were toothless (PLSTL1 and PLSTL2), and one sister had most of the teeth in the oral cavity (PLST). Total DNA was extracted from the unstimulated saliva, and the amplicon sequencing of the 16S rRNA gene fragment was performed in an Ion PGM platform. The amplicon sequence variants (ASVs) were obtained using the DADA2 pipeline, and the taxonomy was assigned using the SILVA v.138. The main phenotypic characteristics of PLS were bone loss and premature loss of primary and permanent dentition. The PLST sister presented advanced periodontitis with gingival bleeding and suppuration, corresponding to the advanced periodontitis as a manifestation of systemic disease, stage IV, grade C. All three PLS sisters presented hyposalivation as a possible secondary outcome of the syndrome. Interestingly, PLST salivary microbiota was dominated by the uncultured bacteria (F0058), , , and ( domain). , , and () dominated the microbiome of the PLSTL1 sister, while the PLSTL2 had higher abundances of and . This study was the first to show a high abundance of organisms belonging to the domain comprising a core microbiome in human saliva. In conclusion, a PLST individual does have a microbiota different from that of the periodontitis' aggressiveness previously recognized. Due to an ineffective cathepsin C, the impairment of neutrophils probably provided a favorable environment for the PLS microbiome. The interactions of F0058, , and with the microbial consortium of PLS deserves future investigation. Traditional periodontal therapy is not efficient in PLS patients. Unraveling the PLS microbiome is essential in searching for appropriate treatment and avoiding early tooth loss.
原发性掌跖角化-牙周病综合征（PLS）是一种常染色体隐性遗传的罕见疾病，其主要特征包括掌跖过度角化和由于牙周炎（以前称为侵袭性牙周炎）导致的早期缺牙。本研究旨在对 3 位 PLS 姐妹的口腔表型，包括唾液参数和唾液微生物组进行特征描述。其中 2 位姐妹无牙（PLSTL1 和 PLSTL2），1 位姐妹口腔内大部分牙齿（PLST）仍在。从非刺激唾液中提取总 DNA，并在 Ion PGM 平台上进行 16S rRNA 基因片段的扩增子测序。使用 DADA2 管道获得扩增子序列变异体（ASVs），并使用 SILVA v.138 分配分类单元。PLS 的主要表型特征是骨丧失和乳牙和恒牙的早期缺失。PLST 姐妹表现出严重的牙周炎，伴有牙龈出血和化脓，这对应于全身性疾病的晚期牙周炎，表现为 IV 期，C 级。所有 3 位 PLS 姐妹均表现出低分泌，这可能是该综合征的继发结果。有趣的是，PLST 的唾液微生物群主要由未培养的细菌 （F0058） 、 、 和 （域）主导。 、 和 （ ）主导 PLSTL1 姐妹的微生物组，而 PLSTL2 则具有更高丰度的 和 。本研究首次显示属于人类唾液核心微生物组的 域的高丰度生物体。总之，PLST 个体的微生物群与以前公认的牙周炎侵袭性不同。由于组织蛋白酶 C 无效，中性粒细胞的损伤可能为 PLS 微生物群提供了有利的环境。F0058、 、和 与 PLS 微生物群落的相互作用值得进一步研究。传统的牙周治疗对 PLS 患者无效。阐明 PLS 微生物组对于寻找合适的治疗方法和避免早期牙齿缺失至关重要。
