# The oral microbiome of a family including Papillon-Lefèvre-syndrome patients and clinically healthy members

**Authors:** Péter Vályi, Roland Wirth, János Minárovits, Orsolya Strang, Gergely Maróti, Kornél L. Kovács

PMC · DOI: 10.1186/s12903-024-03856-z · 2024-01-31

## TL;DR

This study compares the oral microbiomes of family members with and without Papillon-Lefèvre syndrome, finding a link to specific bacteria.

## Contribution

The study identifies Aggregatibacter actinomycetemcomitans as a key pathogen in Papillon-Lefèvre syndrome oral microbiomes.

## Key findings

- Patients with Papillon-Lefèvre syndrome had oral microbiomes dominated by Aggregatibacter actinomycetemcomitans.
- Healthy family members had microbiomes similar to those with mild periodontitis.
- Targeted treatment against A. actinomycetemcomitans may improve oral health in affected individuals.

## Abstract

The oral microbiota composition of patients diagnosed with Papillon-Lefèvre-syndrome and treated for several years were compared to those existing in the oral cavity of the clinically healthy family members and a cohort of patients having various stages of chronic periodontitis.

A family with two sisters affected with severe periodontitis and with the typical skin symptoms of Papillon-Lefèvre-syndrome, and symptomless parents and third sibling were investigated. The Patients received periodontal treatment for several years and their oral microbiome was analysed by amplicon sequencing. Data were evaluated by microbial cluster analysis.

The microbiome of the patients with Papillon-Lefèvre-syndrome was predominated with Aggregatibacter actinomycetemcomitans and associated oral periodontopathogens. Although the clinically healthy family members showed no oral disorder, their microbiome resembled that of subjects having mild periodontitis.

Predominance of A. actinomycetemcomitans in the subgingival microbiome of patients with Papillon-Lefèvre-syndrome suggests that specific treatment strategies directed against this pathobiont may improve the oral health status of the affected individuals.

The study was conducted in accordance with the Declaration of Helsinki and the ethical permission has been issued by the Human Investigation Review Board of the University of Szeged, Albert Szent-Györgyi Clinical Centre (Permission No. 63/2017-SZTE). September 19, 2017. https://u-szeged.hu/klinikaikutatas/rkeb-altal-jovahagyott/rkeb-2017.

## Linked entities

- **Diseases:** Papillon-Lefèvre-syndrome (MONDO:0009490), chronic periodontitis (MONDO:0005593)
- **Species:** Aggregatibacter actinomycetemcomitans (taxon 714)

## Full-text entities

- **Genes:** CAMP (cathelicidin antimicrobial peptide) [NCBI Gene 820] {aka CAP-18, CAP18, CRAMP, FALL-39, FALL39, HSD26}, IL1B (interleukin 1 beta) [NCBI Gene 3553] {aka IL-1, IL1-BETA, IL1F2, IL1beta}, NLRP3 (NLR family pyrin domain containing 3) [NCBI Gene 114548] {aka AGTAVPRL, AII, AVP, C1orf7, CIAS1, CLR1.1}, ELANE (elastase, neutrophil expressed) [NCBI Gene 1991] {aka ELA2, GE, HLE, HNE, NE, PMN-E}, CTSC (cathepsin C) [NCBI Gene 1075] {aka CPPI, DPP-I, DPP1, DPPI, HMS, JP}, MPO (myeloperoxidase) [NCBI Gene 4353], CSF3 (colony stimulating factor 3) [NCBI Gene 1440] {aka C17orf33, CSF3OS, GCSF}, PRTN3 (proteinase 3) [NCBI Gene 5657] {aka ACPA, AGP7, C-ANCA, CANCA, MBN, MBT}, CTSG (cathepsin G) [NCBI Gene 1511] {aka CATG, CG}, CASP1 (caspase 1) [NCBI Gene 834] {aka ICE, IL1BC, P45}, LYZ (lysozyme) [NCBI Gene 4069] {aka AMYLD5, LYZF1, LZM}
- **Diseases:** autosomal recessive hereditary disease (MESH:D030342), malignant cutaneous neoplasms (MESH:D009369), periodontal pocket (MESH:D010514), PLS (MESH:D010214), bone loss (MESH:D001847), erythema on the palms, soles of the feet (MESH:C535620), PPD (MESH:D005888), oral disorder (MESH:D009056), NETs (MESH:C536657), hyperkeratosis (MESH:D017488), COVID (MESH:D000086382), Kostmann disease (MESH:C537592), extracellular (MESH:C535509), LL-37 deficiency (OMIM:616098), carious lesion (MESH:D003731), ectodermal dysplasia (MESH:D004476), periodontal disease (MESH:D010510), skin lesion (MESH:D012871), cross-infections (MESH:D003428), autosomal recessive condition (MESH:D020763), immunodeficiency (MESH:D007153), gingival inflammation (MESH:D007249), cutaneous lesions (MESH:D009059), bone resorption (MESH:D001862), gingivitis (MESH:D005891), dental anomalies (OMIM:614188), Periodontitis (MESH:D010518), neutropenia (MESH:D009503), palmoplantar eruption (MESH:D007645), BOP (MESH:D006470), chronic periodontitis (MESH:D055113), dysbiosis (MESH:D064806), infection (MESH:D007239)
- **Chemicals:** Na-EDTA (-), TE (MESH:D013691), tetracyclin (MESH:D013752), catecholamine (MESH:D002395), metronidazole (MESH:D008795), Doxycyclin (MESH:D004318), epinephrine (MESH:D004837), ROS (MESH:D017382), amide (MESH:D000577), AMPs (MESH:D000089882)
- **Species:** Filifactor alocis (species) [taxon 143361], Homo sapiens (human, species) [taxon 9606], Segatella oris (species) [taxon 28135], Bacteria Latreille et al. 1825 (Bacteria stick insect, genus) [taxon 629395], Parvimonas micra (species) [taxon 33033], Treponema sp. (species) [taxon 166], Porphyromonas gingivalis (species) [taxon 837], Aggregatibacter actinomycetemcomitans (species) [taxon 714], Prevotella intermedia (species) [taxon 28131], Tannerella forsythia (species) [taxon 28112], Fusobacterium nucleatum (species) [taxon 851], Candidatus Saccharimonadota (candidate division TM7, phylum) [taxon 95818], Arachnia propionica (species) [taxon 1750], Leptotrichia sp. (species) [taxon 104608], Bos taurus (bovine, species) [taxon 9913], Cardiobacterium hominis (species) [taxon 2718]

## Figures

9 figures with captions in the complete paper: https://tomesphere.com/paper/PMC10832247/full.md

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Source: https://tomesphere.com/paper/PMC10832247