Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0031099 (periodontitis)
 12,489 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An increasing number of evidence supports the assumption that genetic factors have crucial role in the development of periodontitis and hypodontia. The strategic purpose of the authors is to identify the genetic background of these disorders and to map the gene polymorphisms involved in their development. As a first step of an experimental series, we aimed to set and optimize multiple individual gene polymorphism identification methods by the combination of polymerase chain reaction and restriction fragment length polymorphism analysis methods. We have successfully optimized eight single nucleotide polymorphism procedures that are potentially involved in periodontitis (IL-1 alpha -889, IL-1 beta -511, IL-1 beta +3954, IL-6 -174, IL-10 -1082, TLR-4 -299, TLR-4 -399, TNF-alpha -308), and another two that might be related to the appearance of hypodontia (PAX9 -1032, PAX9 -912). Besides the dominant allele, we also observed the presence of the rare allele in each polymorphism although at present we have a small sample number. These preliminary studies provide evidence for the feasibility of further investigations with large sample numbers comparing control and patient groups. These studies may lead to the development of new diagnostic strategies and provide novel tools for the early recognition of genetic predisposition and the primary control of the diseases. Furthermore, they project future therapeutic avenues for gene therapy in the cure and prevention of oral disorders.
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PMID:Gene polymorphisms in periodontitis and hypodontia: methodological basis of investigations. 1807 45

Periodontitis is affecting over half of the adult population, and represents a major public health problem. Previously, we isolated a subset of gingival fibroblasts (GFs) from periodontitis patients, designated as periodontitis-associated fibroblasts (PAFs), which were highly capable of collagen degradation. To elucidate their molecular profiles, GFs isolated form healthy and periodontitis-affected gingival tissues were analyzed by CAGE-seq and integrated with the FANTOM5 atlas. GFs from healthy gingival tissues displayed distinctive patterns of CAGE profiles as compared to fibroblasts from other organ sites and characterized by specific expression of developmentally important transcription factors such as BARX1, PAX9, LHX8, and DLX5. In addition, a novel long non-coding RNA associated with LHX8 was described. Furthermore, we identified DLX5 regulating expression of the long variant of RUNX2 transcript, which was specifically active in GFs but not in their periodontitis-affected counterparts. Knockdown of these factors in GFs resulted in altered expression of extracellular matrix (ECM) components. These results indicate activation of DLX5 and RUNX2 via its distal promoter represents a unique feature of GFs, and is important for ECM regulation. Down-regulation of these transcription factors in PAFs could be associated with their property to degrade collagen, which may impact on the process of periodontitis.
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PMID:Transcriptome analysis of periodontitis-associated fibroblasts by CAGE sequencing identified DLX5 and RUNX2 long variant as novel regulators involved in periodontitis. 2764 61