Abstract

Aim Aware that Down Syndrome patients present among their clinical characteristics impaired immunity, the aim of this study is to identify the statistically significant differences in inflammation-related gene expression by comparing Down Syndrome patients with Periodontal Disease (DS+PD+) with Down Syndrome patients without Periodontal Disease (DS+PD-), and their relationship with periodontitis as a chronic oral inflammatory clinical feature. Materials and Methods Case study and controls on eleven Down Syndrome patients (DS+PD+ vs. DS+PD-). RNA was extracted from peripheral blood using a Qiagen PAXgene Blood miRNA Kit when performing an oral examination. A search for candidate genes (92 selected) was undertaken on the total genes obtained using a Scientific GeneChip® Scanner 3000 (Thermo Fisher Scientific) and Clariom S solutions for human, mouse, and rat chips, with more than 20,000 genes annotated for measuring expression levels. Results Of the 92 inflammation-related genes taken initially, four genes showed a differential expression across both groups with a p value of <0.05 from the data obtained using RNA processing of the patient sample. Said genes were TNFSF13B (p = 0.0448), ITGB2 (p = 0.0033), ANXA3 (p = 0.0479), and ANXA5 (p = 0.016). Conclusions There are differences in inflammation-related gene expression in Down Syndrome patients when comparing patients who present a state of chronic oral inflammation with patients with negative rates of periodontal disease.

Highlights

  • Down Syndrome covers a large number of pathologies affecting practically every bodily system or apparatus, including cardiovascular; haematological; skeletal; muscular; nervous; endocrine; ear, nose, and throat; ocular; and digestive

  • Aggressive periodontitis shows characteristic clinical features similar to those of the population who do not suffer from the syndrome, special features in periodontal pathogens have been identified, such as an increase in Porphyromonas gingivalis (Pg) and Aggregatibacter actinomycetemcomitans (Aac) in these patients compared to patients who do not suffer from trisomy of chromosome 21 (T-21) but who do present aggressive periodontitis [2]

  • Of the 92 inflammationrelated genes selected from a prior study of another group [14] which were searched using Transcriptome Analysis Console (TAC, Affymetrix) Software, four genes showed differential expression across the two groups of patients studied

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Summary

Introduction

Down Syndrome covers a large number of pathologies affecting practically every bodily system or apparatus, including cardiovascular; haematological; skeletal; muscular; nervous; endocrine; ear, nose, and throat; ocular; and digestive. It affects to a large extent their oral health and, their dental treatment. Aggressive periodontitis shows characteristic clinical features similar to those of the population who do not suffer from the syndrome, special features in periodontal pathogens have been identified, such as an increase in Porphyromonas gingivalis (Pg) and Aggregatibacter actinomycetemcomitans (Aac) in these patients compared to patients who do not suffer from trisomy of chromosome 21 (T-21) but who do present aggressive periodontitis [2]. There is speculation about the importance of a particular Pg clone in the triggering of this type of periodontitis (the Pg-JP2 clone) or superinfection by herpes virus, including Epstein-Barr or cytomegalovirus [4, 5]

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