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Preliminary Study in Overview of CYP2A6 Gene Variation in Infertile Male Patients Jihadin Rasyadi Mumtaz; Zeti Harriyati; Chris Adhiyanto; Nurul Hiedayati; Yona Mimanda; Muniroh Muniroh
The Avicenna Medical Journal Vol 2, No 1 (2021)
Publisher : Faculty of Medicine, UIN (State Islamic University) Syarif Hidayatullah Jakarta

Introduction: Infertility is a condition which is described by WHO as inability for having children after one year of relationship without birth control. this condition can be caused both from inside and outside the body. One of the major outside factors is exposure to chemical substances, which in this case nicotine substance that came from cigarettes. The CYP2A6 gene is a coding gene for the xenobiotic metabolic enzyme, in this case nicotine which can cause infertility in men. Mutations in this gene can lead to nicotine buildup, increasing nicotine effect thus increasing the risk of infertility in men. The aim of this study was to determine whether there were variations in the CYP2A6 gene in male infertile patients.Methods: The method used was the isolation of infertile and fertile sperm DNA samples (five samples each) which were then amplified at the target DNA (CYP2A6) by PCR method and then sequenced to see the nucleutide sequence.Result: The results of this study showed that there were variations in the CYP2A6 gene that occurred only in infertile patients, heterogeneous mutations in the 7788th(C-A), 8040th (C-T), 7661st (G-C) nucleutide sequence of the CYP2A6 gene and SNP mutations in the 8250th(T>C), 8409th (T>G/C), and 8428th(C>T) nucleutide sequence of the CYP2A6 gene.Conclusion: The conclusion of this study is that there are CYP2A6 variations that found only in infertile male patients.

Association of SMAD3 Gene rs12901499 Variation with Knee Osteoarthritis in Indonesian Aged Women Zaki, Achmad; Adhiyanto, Chris; Hendarmin, Laifa Annisa; Naqiya, Fauzia Ilman; Karni, Dwi; Harriyati, Zeti
Jurnal Profesi Medika : Jurnal Kedokteran dan Kesehatan Vol 17 No 1 (2023): Jurnal Profesi Medika : Jurnal Kedokteran dan Kesehatan
Publisher : Fakultas Kedokteran UPN Veteran Jakarta Kerja Sama KNPT

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.33533/jpm.v17i1.5738

Small Mother Against Decapentaplegic 3 (SMAD3), an intracellular transducer protein in the TGF-β signaling pathway, has a role in maintaining joint cartilage. Many studies have been conducted to examine the effect of polymorphism in SMAD3 gene with the incidence of osteoarthritis (OA). The objective of this study is to identify the association of SMAD3 gene rs12901499 variation with the incidence of knee OA in Indonesian women. We conducted an analytic cross-sectional design involving 24 knee OA patients and 50 non-OA subjects. The DNA was taken from saliva and genotyped using a kit from Integrated DNA Technologies with the Real Time PCR method. In this study, we found that the GA genotype (heterozygous mutant) of the rs12901499 allele was the allele that most frequently (50%) appeared in knee OA patients as well as non-OA subjects (50%). The G allele frequency was higher than the A allele among all participants. The Chi-Square analysis showed that there was no statistically significant relationship between allele variations in the SMAD3 rs12901499 gene and knee OA (p=1). In conclusion, there was no statistically significant relationship between the rs12901499 genetic variation in the SMAD3 gene and the incidence of knee osteoarthritis in Indonesian aged women.

Studi awal: Identifikasi Keragaman Gen Bakteri Saliva pada Wanita Usia Lanjut Menggunakan Teknologi 16S Ribosome Sequencing Oxford Nanopore Adhiyanto, Chris; Hendarmin, Laifa A; Harriyati, Zeti; Suwarsono, Erike A. Suwarsono A; Suri, Auliyani Andam; Nugraha, Yudhi; Gunarti, Dwirini Retno
Pharmaceutical and Biomedical Sciences Journal (PBSJ) Vol 7, No 1 (2025)
Publisher : UIN Syarif Hidayatullah Jakarta

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.15408/pbsj.v7i1.46752

The elderly are a population particularly susceptible to diseases resulting from the decline in immune system function. The mouth is one of the areas of the body that is the entry point for microorganisms into the body. It is known that the oral microbiome greatly affects oral and systemic health. The oral bacterial profile is important to understand its role in maintaining health and causing disease. Therefore, maintaining oral health is very important, especially in our study of the elderly. Utilizing advanced sequencing techniques such as Oxford Nanopore Technology (ONT) offers the opportunity to reveal bacterial diversity comprehensively. This study aims to identify the oral microbiome in a group of elderly women. Knowledge of the oral microbiota profile could help spread awareness of the benefits of maintaining good dental hygiene, especially in older adults. Methods: Seven elderly housewives had their unstimulated saliva samples taken in the morning and kept at -80°C. The phenol-chloroform technique was used to isolate the DNA, and a Qubit Fluorometer was used to measure purity and concentration. By employing ONT for 16S rRNA sequencing and Epi2Me software for analysis, taxonomic mapping of the bacterial diversity was accomplished. Results: According to the taxonomic analysis, Streptococcus and Veillonella were the most common genera in the samples. It was common to find species like Veillonella parvula, Veillonella atypica, Streptococcus mitis, and Streptococcus rubneri. These genera contributed to the dynamics of oral biofilms by exhibiting complex ecological interactions. With advanced sequencing technologies, this work highlights the diversity of oral bacteria in elderly women in Indonesia while providing a new perspective. Notwithstanding a few limitations, these findings provide insight into the ecological dynamics of the oral microbiota, potentially leading to clinical applications in the treatment and prevention of disease.

Studi Awal: Identifikasi Keragaman Bakteri Saliva Wanita Usia Lanjut Menggunakan Teknologi 16S rRNA Sequencing Oxford Nanopore Adhiyanto., Ph.D, Chris; Hendarmin, Laifa A.; Harriyati, Zeti; Suwarsono, Erike A.; Suri , Auliyani Andam; Nugraha, Yudhi; Gunarti, Dwirini Retno
Pharmaceutical and Biomedical Sciences Journal (PBSJ) Vol. 7 No. 1 (2025)
Publisher : Pharmaceutical and Biomedical Sciences Journal (PBSJ)

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.15408/pbsj.v7i1.49111

The elderly are a population particularly susceptible to diseases resulting from the decline in immune system function. The mouth is one of the areas of the body that is the entry point for microorganisms into the body. It is known that the oral microbiome greatly affects oral and systemic health. The oral bacterial profile is important to understand its role in maintaining health and causing disease. Therefore, maintaining oral health is very important, especially in our study of the elderly. Utilizing advanced sequencing techniques such as Oxford Nanopore Technology (ONT) offers the opportunity to reveal bacterial diversity comprehensively. This study aims to identify the oral microbiome in a group of elderly women. Knowledge of the oral microbiota profile could help spread awareness of the benefits of maintaining good dental hygiene, especially in older adults. Methods: Seven elderly housewives had their unstimulated saliva samples taken in the morning and kept at -80°C. The phenol-chloroform technique was used to isolate the DNA, and a Qubit Fluorometer was used to measure purity and concentration. By employing ONT for 16S rRNA sequencing and Epi2Me software for analysis, taxonomic mapping of the bacterial diversity was accomplished. Results: According to the taxonomic analysis, Streptococcus and Veillonella were the most common genera in the samples. It was common to find species like Veillonella parvula, Veillonella atypica, Streptococcus mitis, and Streptococcus rubneri. These genera contributed to the dynamics of oral biofilms by exhibiting complex ecological interactions. With advanced sequencing technologies, this work highlights the diversity of oral bacteria in elderly women in Indonesia while providing a new perspective. Notwithstanding a few limitations, these findings provide insight into the ecological dynamics of the oral microbiota, potentially leading to clinical applications in the treatment and prevention of disease.

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