Elza Ibrahim Auerkari

Gene promoter polymorphism of RUNX2 and risk of osteoporosis in postmenopausal Indonesian women

Objectives: Osteoporosis is a metabolic bone disease of reduced bone mass density (BMD) and elevated risk of fracture due to an imbalance in bone formation and resorption. The risk and incidence of osteoporosis increase towards advanced age, particularly in postmenopausal women, and the risk is known to be affected by the variation in the expression of the associated regulatory genes. This work aimed to clarify the impact of variation in RUNX2 (runt domain transcription factor 2), which is an osteoblast-specific transcription factor that normally stimulates bone formation and osteoblast differentiation, regarding single-nucleotide polymorphism within RUNX2 promoter (P1) and risk of osteoporosis in postmenopausal Indonesian women. Methods: Using DNA sampling from blood, the variation at the single-nucleotide polymorphism (-330, G→T, rs59983488) at the RUNX2 P1 promoter was investigated using polymerase chain reaction–restriction fragment length polymorphism for 180 consenting postmenopausal Indonesian women. The subjects were examined for bone mass density and classification to normal and those with osteopenia or osteoporosis by T-scoring with dual-energy X-ray absorptiometry. Chi-square testing and logistic regression were mainly used for statistical assessment. Results: The results showed a general trend with increased risk of osteoporosis associated with the genotype TT (mutant type) and the corresponding T allele of the tested polymorphism of RUNX2 promoter P1. The trend was, however, not significant in multivariate testing adjusted for age and time after menopause. Conclusion: To confirm the potential risk with TT genotype would require testing of a much larger sample of subjects. As the tested single-nucleotide polymorphism only represents one of the relevant candidate locations of RUNX2, the results are taken nevertheless to suggest an impact by overall RUNX2 variation in the risk of osteoporosis in Indonesian postmenopausal women.

CRP and IL-1B Gene Polymorphisms and CRP in Blood in Periodontal Disease

Recent studies have suggested an association between periodontal disease (PD) and the systemic polygenic diseases such as cardiovascular disease (CVD). These are thought to be associated because of interrelated environmental, epigenetic, and genetic risk factors. The involved candidate genes include the IL-1B gene, encoding the pro-inflammatory cytokine IL-1β, and the CRP gene encoding the C-reactive protein (CRP), also a known marker of inflammation. However, as the details are not well known on the genetic variation influencing the risk factors, this work aimed to evaluate the distribution of selected polymorphisms of IL-1B and CRP genes, and serum CRP level, in comparison with the PD status. For this purpose, periodontal health was assessed, serum CRP levels measured and polymorphism status of IL-1B and CRP genes determined from samples of peripheral blood taken from 101 consenting Indonesian adult males. The results show that severe PD was significantly associated with age and smoking, as expected, but not with the polymorphisms of IL-1B or CRP (1444). However, a significantly lower fraction of subjects with normal periodontal health than subjects with PD showed the heterozygous type polymorphism of CRP (717). There was no significant difference in the fraction of cases with elevated serum CRP level between subjects with normal health and those with PD, and further study with a larger sample is recommended. The observed association between polymorphism of CRP (717) and periodontal health is suggested as a complementary indicator of the risk to PD for the Indonesian male population.

Hormonal and Genetic Role Affecting the Bone Resorption in Patients with Osteoporosis

Increasing age, especially in postmenopausal women, shows a decline in anabolic hormones activity and an increase in anti-anabolic hormones activity. This causes bone resorption and may lead to osteoporosis. Osteoporosis is a degenerative disorder marked by decrease in bone mass because of imbalance between bone resorption and formation. Bone strength is determined by morphology, bone structure & geometry, bone remodelling and quality of extracellular matrix. The balance in bone resorption and formation determines bone density and affects one’s susceptibility to bone fracture. Bone resorption is affected by bone metabolism process on cellular level, and on edentulous areas is more affected by hormonal, nutritional and metabolism factors. Morrison and Coll have found that there are many polymorphisms in osteoporosis etiopathogenesis, some among them showing a large influence on BMD (Bone mineral density) compared to others, including Estrogen, VDR, COLIA1, PTH, PTHR1,and encoding genes for some cytokines and

Congenital Missing Teeth

Oral health plays a major role in an individual’s well-being, affecting all aspects of quality of life: esthetics, function, and speech. Abnormalities in oral health may disrupt any or all of these aspects. One of the challenging and most common dental anomalies found in daily practice is congenital missing teeth (CMT). CMT affects more than 20% of the human population and can negatively affect mouth esthetics, dental function, and even a person’s speech. CMT essentially result from a defect in tooth development, which is a complex process. Environmental and genetic factors, combined with epigenetics, have been credited with disrupting tooth development, causing CMT. Most cases of CMT are found in a familial pattern, and among all factors, genetics plays a fundamental part; therefore, heredity has a crucial role in determining an individual’s phenotype of CMT. There are more than 300 genes that contribute to odontogenesis, and their mutations may be manifest as hypodontia with varying degrees of penetrance and expressivity. A major cause of autosomal dominant non-syndromic hypodontia is mutation in the MSX1 and PAX9 genes in humans. In the present paper, we will discuss in brief the definition, prevalence, etiology, and roles of genetics and epigenetics in CMT, as well as the types of gene mutation, with emphasis on mutation in the MSX1 and PAX9 genes related to CMT.

Effect of white tea and xylitol on structure and properties of demineralized enamel and jawbone

White tea and xylitol have been suggested as potential agents to combat dental caries and osteoporosis through enhanced remineralization. This investigation aimed to determine the effects of exposure to white tea with and without xylitol on the structure, composition and hardness of demineralized human dental enamel. For control, samples of untreated and demineralized enamel and samples of untreated rat jawbone were subjected to similar measurements. For demineralization, the enamel samples were immersed for two days at 50°C in an acetate solution (pH 4.0). All samples were then soaked for two weeks at 37°C in a solution containing three different concentrations of white tea, xylitol or both, and an optional addition of the remineralization ingredients including Ca, P and F. For enamel samples without preceding demineralization and without added remineralization ingredients, the results showed highest mean hardness after immersion in a solution containing both white tea and xylitol, practically independently of their applied concentration level. However, for demineralized enamel samples with added remineralization ingredients, the resulting mean hardness was also dependent on concentration of white tea and xylitol. With sufficient concentration, hardness was again higher for combined white tea and xylitol than for either of these used alone.

Association between IL-1RN VNTR polymorphism and head and neck cancer in Indonesian population

The interleukin-1 receptor antagonist (IL-1RN) is a natural antagonist of IL-1 receptors, and its 86-bp variable number tandem repeat (VNTR) polymorphism within intron 2 has been associated with the development of several cancers. This study aimed to evaluate the IL-1RN polymorphism for its potential association with head and neck cancer in Indonesia population. Polymerase chain reaction analysis was performed on stored blood-derived DNA samples from 110 control participants and 90 patients with head and neck cancer for the IL-1RN VNTR polymorphism. Chi-square and odds ratio were used for the statistical analysis. This study showed no significant difference in the frequencies of genotypes or alleles in either the control or the cancer groups. However, a larger sample size could reveal a more significant difference between the groups. The IL-1RN VNTR polymorphism was not associated with head and neck cancer in the studied Indonesian population.

Perception of dental visit pictures in children with autism spectrum disorder and their caretakers: A qualitative study

Objectives: One of the most common ways to communicate to children with autism spectrum disorder (ASD) is by using pictures. This study was conducted to identify the easiest perception of dental visit by children with ASD when using pictures as printed photographs. Materials and Methods: Purposive sampling was used to recruit participants from a school for children with special needs in south Jakarta. Semi-structured interviews were conducted with 10 autistic children aged 13–17 years, 2 parents, and 2 teachers. Open-ended questions were asked to participants regarding pictures of dental clinic personnel and activity. Conversations were noted, tape recorded, and then categorized to extract a theme. The data were analyzed using Dedoose mixed methods software. Results: Most respondents showed a positive perception of the dental visit pictures. Many of the pictures were easily recognized by children with ASD, but some failed to be understood. Caretakers not only gave their perception but also recommendations for improvement of the pictures. Conclusions: Dental visit pictures could be used as useful communication tools for children with ASD. Based on the results, the pictures related to dental visit were generally easy to understand, however, some needed correction to be comprehensible.