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Cathepsin C Gene Mutations in Twins with Aggressive Periodntitis

Author: LiuYang
Tutor: WangQinTao；WangXinWen
School: Fourth Military Medical University
Course: Clinical Stomatology
Keywords: Aggressive periodontitis Twin Gene mutation Cathepsin C
CLC: R781.4
Type: Master's thesis
Year: 2011
Downloads: 9
Quote: 0
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Abstract


Background: aggressive periodontitis (aggressive periodontitis, AgP) is a class of fast periodontal attachment loss and alveolar bone destruction of the main features of the disease, can be divided into diffuse type (generalized) and localized (localized) The significant difference between chronic periodontitis. : Addition to suffering from periodontitis patients usually health; presence of rapid attachment loss and bone destruction; the obvious loose teeth or shift; familial aggregation. During the development of aggressive periodontitis pathogenesis is influenced by multiple factors, the main pathogens Actinobacillus actinomycetemcomitans (the Actinobacillus actinomycetemcomitans Aa), 90% to 100% of patients in subgingival plaque separable the Aa, some patients gums porphyrin Aeromonas bacteria (Porphyromonas gingivalis, Pg) the proportion might appear elevated. Inflammatory mediators and cytokines play a major role of mediated in localized periodontal tissue destruction process. Peripheral blood mononuclear cells of patients with periodontitis or neutral polymorphonuclear leukocyte chemotactic function decreased, accompanied by phagocytic dysfunction. Serum C-reactive protein, tumor necrosis factor-α will rise. In addition, the adjustment of genetic and environmental factors also play a role. Studies suggest that the protein decreased activity of cathepsin C (Cathepsin C, CTSC) gene mutation causes the occurrence of aggressive periodontitis clinical phenotype different the family mutation sites in different patients, also part of the family no mutation. By three years of observation of patients with aggressive periodontitis twins patients with a clinical diagnosis, treatment, laboratory tests and CTSC gene sequencing methods, in order to learn more about the causes of the disease. The first part of the aggressive periodontitis twins clinical data collection, the periodontal specialist examination and laboratory tests in order to simultaneously on two cases of patients suffering from periodontitis twins definite diagnosis, this study applied in clinical routine oral and periodontal specialist check laboratory routine and special inspection methods. Found no systemic abnormalities and disease, and the remaining teeth were loose Ⅱ - Ⅲ degrees, severe bone loss, gum swelling and hyperemia otopyosis mouth. Parents married for the fourth generation of a close relative. Two patients initially diagnosed with aggressive periodontitis pathogenic candidate genes for further experimental detection possible. The second part of the families of patients with aggressive periodontitis twins the suspected causative gene detection experiments: Collect Ankang, Shaanxi, China aggressive periodontitis pedigree, 2 generations of human peripheral blood successfully extracted DNA genome, for the next gene mutation detection Institute. Experiment II: With the research work carried out, the pathogenic candidate gene primaries cathepsin C (expression of Cathepsin C CTSC), polymerase chain reaction (PCR) and DNA sequencing results show that CTSC gene in the patients and their family outside exons found a mutation. G, R132G and two patients sequencing profiles showed a single peak structure (G), is a new type of mutation c.394 C gt; The mutation leads conservative arginine misinterpreted as glycine. Their parents and younger brother with a point c.394C gt; G miscellaneous mutation, but did not appear any the periodontal similar clinical manifestations. Initially speculated may change occurred in R132G causing the CTSC proteins function defects caused by the onset specific mechanism needs in-depth study.

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CLC: > Medicine, health > Oral Sciences > Oral medicine > Periodontal disease
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