Oral Phenotype and Salivary Microbiome of Individuals With Papillon–Lefèvre Syndrome
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 salivar...
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Frontiers Media S.A.
2021-08-01
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| Series: | Frontiers in Cellular and Infection Microbiology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fcimb.2021.720790/full |
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| author | Giulia Melo Lettieri Luander Medrado Santiago Giancarlo Crosara Lettieri Luiz Gustavo dos Anjos Borges Luiz Gustavo dos Anjos Borges Letícia Marconatto Laudimar Alves de Oliveira Nailê Damé-Teixeira Loise Pedrosa Salles |
| author_facet | Giulia Melo Lettieri Luander Medrado Santiago Giancarlo Crosara Lettieri Luiz Gustavo dos Anjos Borges Luiz Gustavo dos Anjos Borges Letícia Marconatto Laudimar Alves de Oliveira Nailê Damé-Teixeira Loise Pedrosa Salles |
| author_sort | Giulia Melo Lettieri |
| collection | DOAJ |
| description | 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 Bacterioidales (F0058), Fusobacterium, Treponema, and Sulfophobococcus (Archaea domain). Streptococcus, Haemophilus, and Caldivirga (Archaea) dominated the microbiome of the PLSTL1 sister, while the PLSTL2 had higher abundances of Lactobacillus and Porphyromonas. This study was the first to show a high abundance of organisms belonging to the Archaea 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 Bacteroidales F0058, Caldivirga, and Sulfophobococcus 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. |
| first_indexed | 2024-12-14T00:24:49Z |
| format | Article |
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| issn | 2235-2988 |
| language | English |
| last_indexed | 2024-12-14T00:24:49Z |
| publishDate | 2021-08-01 |
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| series | Frontiers in Cellular and Infection Microbiology |
| spelling | doaj.art-c745a82804d6464cbe63a1b011ce785c2022-12-21T23:25:05ZengFrontiers Media S.A.Frontiers in Cellular and Infection Microbiology2235-29882021-08-011110.3389/fcimb.2021.720790720790Oral Phenotype and Salivary Microbiome of Individuals With Papillon–Lefèvre SyndromeGiulia Melo Lettieri0Luander Medrado Santiago1Giancarlo Crosara Lettieri2Luiz Gustavo dos Anjos Borges3Luiz Gustavo dos Anjos Borges4Letícia Marconatto5Laudimar Alves de Oliveira6Nailê Damé-Teixeira7Loise Pedrosa Salles8Department of Dentistry, Faculty of Health Sciences, University of Brasilia, Brasília, BrazilDepartment of Dentistry, Faculty of Health Sciences, University of Brasilia, Brasília, BrazilPeriodontology Research Group, Specialized Center in Periodontology and Implantology, Brasília, BrazilMicrobial Interactions and Processes Research Group, Helmholtz Centre for Infection Research, Braunschweig, GermanyInstitute of Petroleum and Natural Resources, Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, BrazilMicrobial Interactions and Processes Research Group, Helmholtz Centre for Infection Research, Braunschweig, GermanyDepartment of Dentistry, Faculty of Health Sciences, University of Brasilia, Brasília, BrazilDepartment of Dentistry, Faculty of Health Sciences, University of Brasilia, Brasília, BrazilDepartment of Dentistry, Faculty of Health Sciences, University of Brasilia, Brasília, BrazilPapillon–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 Bacterioidales (F0058), Fusobacterium, Treponema, and Sulfophobococcus (Archaea domain). Streptococcus, Haemophilus, and Caldivirga (Archaea) dominated the microbiome of the PLSTL1 sister, while the PLSTL2 had higher abundances of Lactobacillus and Porphyromonas. This study was the first to show a high abundance of organisms belonging to the Archaea 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 Bacteroidales F0058, Caldivirga, and Sulfophobococcus 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.https://www.frontiersin.org/articles/10.3389/fcimb.2021.720790/fullPapillon–Lefèvre diseasecathepsin Cperiodontal infectionsalivamicrobiologyperiodontitis |
| spellingShingle | Giulia Melo Lettieri Luander Medrado Santiago Giancarlo Crosara Lettieri Luiz Gustavo dos Anjos Borges Luiz Gustavo dos Anjos Borges Letícia Marconatto Laudimar Alves de Oliveira Nailê Damé-Teixeira Loise Pedrosa Salles Oral Phenotype and Salivary Microbiome of Individuals With Papillon–Lefèvre Syndrome Frontiers in Cellular and Infection Microbiology Papillon–Lefèvre disease cathepsin C periodontal infection saliva microbiology periodontitis |
| title | Oral Phenotype and Salivary Microbiome of Individuals With Papillon–Lefèvre Syndrome |
| title_full | Oral Phenotype and Salivary Microbiome of Individuals With Papillon–Lefèvre Syndrome |
| title_fullStr | Oral Phenotype and Salivary Microbiome of Individuals With Papillon–Lefèvre Syndrome |
| title_full_unstemmed | Oral Phenotype and Salivary Microbiome of Individuals With Papillon–Lefèvre Syndrome |
| title_short | Oral Phenotype and Salivary Microbiome of Individuals With Papillon–Lefèvre Syndrome |
| title_sort | oral phenotype and salivary microbiome of individuals with papillon lefevre syndrome |
| topic | Papillon–Lefèvre disease cathepsin C periodontal infection saliva microbiology periodontitis |
| url | https://www.frontiersin.org/articles/10.3389/fcimb.2021.720790/full |
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