Related Experiment Video
Updated: Jun 30, 2026
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Cathepsin C gene variants in aggressive periodontitis
1Department of Conservative Dentistry, Dresden University of Technology, Medical Faculty, Fetscherstrasse 74, 01307, Dresden, Germany. Barbara.Noack@uniklinikumdresden.de
Journal of Dental Research
|September 24, 2008
Summary
Cathepsin C (CTSC) gene variants are linked to aggressive periodontitis. Specific CTSC variants reduce enzyme activity, increasing disease susceptibility in individuals without Papillon-Lefèvre syndrome.
Area of Science:
- Genetics
- Periodontology
- Biochemistry
Background:
- Mutations in Cathepsin C (CTSC) are the established cause of Papillon-Lefèvre syndrome.
- Aggressive periodontitis is a severe inflammatory gum disease with a complex etiology.
- The role of CTSC in non-syndromic aggressive periodontitis remains to be fully elucidated.
Purpose of the Study:
- To investigate the association between CTSC gene variants and susceptibility to generalized aggressive periodontitis.
- To evaluate the functional impact of identified CTSC variants on enzyme activity.
Main Methods:
- Genetic analysis of the CTSC gene in 110 patients with generalized aggressive periodontitis and 78 healthy controls.
- Identification and selection of single-nucleotide polymorphism (SNP) groups in linkage disequilibrium.
- Assessment of CTSC enzyme activity in leukocytes from individuals carrying specific variants.
Main Results:
- A significantly higher carrier frequency of the missense variant p.I453V was observed in patients with aggressive periodontitis compared to controls (17.3% vs. 6.4%).
- Individuals with the p.I453V variant exhibited significantly reduced CTSC activity in leukocytes.
- No significant impact of promoter variants on CTSC mRNA expression was detected.
Conclusions:
- The findings support the hypothesis that CTSC gene variants contribute to an increased susceptibility to generalized aggressive periodontitis.
- The p.I453V variant, associated with reduced CTSC activity, may be a risk factor for aggressive periodontitis.
- Further research into CTSC's role in periodontal disease pathogenesis is warranted.
Related Concept Videos
01:05Single Nucleotide Polymorphisms-SNPs
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
01:29Pharmacogenomics: Identification of New Drug Targets
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
01:23Cystic Fibrosis: Pathogenesis
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
01:29Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
01:43Incomplete Dominance
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
01:58Cell Specific Gene Expression
Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...