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The Relationship Between COMT and MAO-B Gene Polymorphisms with Levodopa in Parkinson’s Disease Patients; A Review Hasna, Vina Luthfiana; Kasasiah, Ahsanal; Manalu, Rosario Trijuliamos; Malau, Jekmal
JURNAL PEMBELAJARAN DAN BIOLOGI NUKLEUS Vol 10, No 1: Jurnal Pembelajaran Dan Biologi Nukleus March 2024
Publisher : Universitas Labuhanbatu

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.36987/jpbn.v10i1.5228

Abstract

Parkinson's disease is a degenerative nervous system disorder caused by the death of dopamine-producing cells in the substantia nigra. Dopaminergic treatment could alleviate motor symptoms for a period. One of the effective dopaminergic medications for symptomatic relief was Levodopa and dopamine agonists. Clinically, Levodopa was always combined with Dopa Decarboxylase (DDC) inhibitors, which redirected Levodopa metabolism towards the COMT pathway, increasing its bioavailability in the central nervous system. The purpose of this article was to investigate the relationship between COMT and MAO-B gene polymorphisms and Levodopa in Parkinson's disease patients, starting by gathering literature on the association between COMT and MAO-B polymorphisms and Levodopa in Parkinson's disease patients using various databases. Reviewed literature revealed that the most frequent polymorphism in the COMT gene was rs4680. Some polymorphisms significantly impacted the treatment of Parkinson's disease patients. However, despite efforts to identify genetic factors influencing the risk of side effects or treatment ineffectiveness, the role of pharmacogenetics in Parkinson's disease has not been fully explored and lacks consistent clinical recommendations. Further research was needed to tailor treatment to individual polymorphisms so that pharmacogenomic approaches could be applied more consistently
DEVELOPMENT OF PLASMID-BASED FOR EXTERNAL CONTROL MATERIALS OF CYP2D6*10 (rs1065852) GENE PCR-BASED DETECTION Malau, Jekmal; Zahra, Aliya Azkia; Kasasiah, Ahsanal; Rahmasari, Ratika; Raekiansyah, Muhareva; Rohmah, Siti; Meilani, Nanda Diva; Septi, Annisa Frastica; Zahro, Aurora Fatimatuz; Annajla, Fathina; Hermosaningtyas, Anastasia Aliesa; Hilmi, Indah Laily
Jurnal Bioteknologi & Biosains Indonesia (JBBI) Vol. 10 No. 2 (2023)
Publisher : BRIN - Badan Riset dan Inovasi Nasional

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.55981/jbbi.2023.2557

Abstract

Reliable clinical diagnosis of Single Nucleotide Polymorphisms (SNPs) is necessary for personalizing tamoxifen medication according to CYP2D6*10 genetic variations. Our research aimed to create a recombinant plasmid for external control material with a molecular size of 3812 bp. The recombinant plasmid was achieved by cloning an 838 bp gene insert of CYP2D6*10 rs1065852 into a 2974 bp pJET1.2 plasmid into Escherichia coli DH10B and selection on ampicillin agar medium. Isolated E. coli recombinants provided the plasmid molecules for analysis. Bi-directional sequencing and Real-Time PCR confirmed the presence of wild-type and mutant rs1065852 DNA fragments in the plasmid, namely homozygote CC and TT. The conclusion is that we have successfully introduced a novel recombinant plasmid developed by cloning the SNP rs1065852, which carries the 100C>T mutation, using pJET 1.2/blunt system, which could significantly enhance the accuracy of clinical SNP diagnostics for personalized medicine in breast cancer treatment.
Literature Review : Study of molecular mechanism level of NSAID class of drugs as COX-2 inhibitors Zakiyah, Wildani; Sukma Wibowo, Sepvia Putri; Elyyana, Nina; Nur Darmawan, Shiyami Aulia; Lestari, Sepiyani Ayu; Sa'diyyah, Nur; Malau, Jekmal; Mulki, Munir Alinu
Jurnal EduHealth Vol. 13 No. 02 (2022): Jurnal eduHealth, Periode Oktober - December, 2022
Publisher : Sean Institute

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (388.745 KB)

Abstract

NSAIDs (Non-Steroid Anti-Inflammatory Drugs) are drugs that can treat pain and inflammation. The therapeutic effect of NSAIDs as anti-inflammatory analgesics is that they have the ability to inhibit the biosynthesis of prostaglandins which are pain mediators. This prostaglandin has a major role in inhibiting the COX enzyme (cyclooxygenase) in which COX has two isoforms, namely COX1 isoenzyme (non-selective) and COX2 isoenzyme (selective). Tricyclic COX-2 selective inhibitors work by blocking COX-2. COX-2 binds to PD-L1 via the PGE2 pathway and affects macrophages in suppressing myeloid. COX-2 has functions including producing reactive oxygen species that are responsible for DNA damage, activating substances that deviate from intracellular pathways such as the MAPK and PI3 K/AKT pathways, activating STAT3, inducing Bcl-2, and producing growth factors including growth factors. epidermal (EGF)) and fibroblast growth factor (FGF).
DEVELOPMENT OF PLASMID-BASED FOR EXTERNAL CONTROL MATERIALS OF CYP2D6*10 (rs1065852) GENE PCR-BASED DETECTION Malau, Jekmal; Zahra, Aliya Azkia; Kasasiah, Ahsanal; Rahmasari, Ratika; Raekiansyah, Muhareva; Rohmah, Siti; Meilani, Nanda Diva; Septi, Annisa Frastica; Zahro, Aurora Fatimatuz; Annajla, Fathina; Hermosaningtyas, Anastasia Aliesa; Hilmi, Indah Laily
Jurnal Bioteknologi & Biosains Indonesia (JBBI) Vol. 10 No. 2 (2023)
Publisher : BRIN - Badan Riset dan Inovasi Nasional

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.55981/jbbi.2023.2557

Abstract

Reliable clinical diagnosis of Single Nucleotide Polymorphisms (SNPs) is necessary for personalizing tamoxifen medication according to CYP2D6*10 genetic variations. Our research aimed to create a recombinant plasmid for external control material with a molecular size of 3812 bp. The recombinant plasmid was achieved by cloning an 838 bp gene insert of CYP2D6*10 rs1065852 into a 2974 bp pJET1.2 plasmid into Escherichia coli DH10B and selection on ampicillin agar medium. Isolated E. coli recombinants provided the plasmid molecules for analysis. Bi-directional sequencing and Real-Time PCR confirmed the presence of wild-type and mutant rs1065852 DNA fragments in the plasmid, namely homozygote CC and TT. The conclusion is that we have successfully introduced a novel recombinant plasmid developed by cloning the SNP rs1065852, which carries the 100C>T mutation, using pJET 1.2/blunt system, which could significantly enhance the accuracy of clinical SNP diagnostics for personalized medicine in breast cancer treatment.
From Genes to Therapy: The Role of Candidate Gene SNP Polymorphisms in the Implementation of Personalized Medicine for Type 2 Diabetes Mellitus Sofia, Siti; Malau, Jekmal; Damara, Dandy Satria; Purbasari, Dwi
Jurnal Biologi Tropis Vol. 25 No. 4a (2025): Special Issue
Publisher : Biology Education Study Program, Faculty of Teacher Training and Education, University of Mataram, Indonesia

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.29303/jbt.v25i4a.10721

Abstract

Type 2 diabetes mellitus is a long-term metabolic disorder shaped by genetic, environmental, and lifestyle influences. Research in genomics reveals that single nucleotide polymorphisms (SNPs) in specific genes can elevate the risk of this condition and may lead to differences in how individuals react to diabetes medications, potentially positioning them as indicators for risk and treatment outcomes in personalized healthcare. This review aims to explore the contributions of SNPs in candidate genes, particularly TCF7L2 rs7903146, KCNJ11 rs5219, KCNQ1 rs2237892, SLC30A8 rs11558471, IRS1 rs1801278, CDKAL1 rs7754840, and MTNR1B rs10830963, contributes to the development of type 2 diabetes. responses to therapy, and their possible roles as clinical markers. A narrative review was carried out by searching literature on PubMed, SpringerLink, and Google Scholar using keywords like “type 2 diabetes mellitus,” “SNP,” and “pharmacogenomics.” English-language articles from 2015 to 2025 that examined connections between genetic variations and either disease risk or treatment responses in humans were included. The findings suggest that these polymorphisms largely impair beta-cell function or disrupt insulin signaling, increasing the likelihood of type 2 diabetes mellitus. Some SNPs are also tied to varied reactions to insulin-based drugs, although metformin typically demonstrates more uniform effectiveness across different genotypes. In summary, SNPs in candidate genes hold promise as tools for risk assessment and personalized treatment choices, but extensive, multi-ethnic prospective studies are essential before they can be integrated into standard clinical practice.
In Silico Analysis of Actin Gene as a Candidate for DNA Non-Halal Detection Base on Real-Time PCR Waluyo, Seagames; Malau, Jekmal; Raekiansyah, Muhareva; Yulian, Edwin; Hardiman, Imam
Indonesian Journal of Halal Research Vol. 3 No. 2 (2021): August
Publisher : UIN Sunan Gunung Djati Bandung

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.15575/ijhar.v3i2.12123

Abstract

Actin genes are genes that are common in organisms, and their expression is constitutive. These genes are used for gene normalization and internal control of DNA extraction, but the actin gene is not widely used for halal certification tests. Bioinformatic studies help to analyze the experiment through in silico more deeply before the experiment is carried out in laboratory, making it more efficient and time effective. uMelt is an analysis to predict the melting curve of target amplification in real-time PCR. Real-time PCR has been widely used for screening and detection of pork content in a product. This research aimed to explore actin gene as a candidate for testing pork using qPCR. The study was carried out in two main stages, namely alignment of the DNA sequence and analysis of the melting curve using the uMelt approach. The results showed a set of actin genes containing conserved regions that can be used as degenerate primers with different family-type coverages. Melting curve prediction with uMelt shows differences in tm peaks so as the types of samples can be easily identified. The use of bioinformatic applications such as uMelt helps in the simulation of predicting the melting curve to increase the precision of the analysis.
Pharmacogenomics β-Blockers in Cardiovascular Disease: Implications for Blood Pressure and Clinical Outcomes Zulqifli, Iqbal; Malau, Jekmal; Aditya, Fitra Ari; Nursyafillah, Rizki Noval; Harbulcholizi, Luthfi; Rahmasari, Ratika; Raekiansyah, Muhareva; Hermosaningtyas, Anastasia Aliesa
Indonesian Journal of Pharmaceutical Science and Technology Vol 13, No 2 (2026)
Publisher : Indonesian Journal of Pharmaceutical Science and Technology

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.24198/ijpst.v13i2.60681

Abstract

Hypertension is a chronic condition that increases the risk of cardiovascular disease and death. β-blockers, including atenolol, metoprolol, bisoprolol, and carvedilol, lower blood pressure by blocking adrenergic receptors. However, variations in response and side effects are often influenced by genetic differences that affect drug metabolism and action. This narrative review analyzes studies published between 2014 and 2024 in PubMed, ScienceDirect, and Google Scholar using keywords related to genetic variation, β-blockers, hypertension, pharmacogenetics, and polymorphisms. Original studies in English, clinical trials on genetic polymorphisms and β-blocker response were included; reviews and incomplete studies were excluded. Clinical outcomes included changes in systolic and diastolic blood pressure, heart rate, hypotension, aortic root z-score, LVOT gradient, NT-proBNP, and premature ventricular contractions, which were associated with polymorphisms in the ADRB1, ADRB2, ACY3, FGD5, SLC4A1, and SLC25A31 genes. Metabolic outcomes, impaired fasting glucose, new-onset diabetes, and melatonin metabolite changes were associated with variants in PRKCB, DPYS, PAH, and PLEKHH2. Most data came from European and North American populations, with limited representation from Asia, limiting generalizability. These findings support the use of pharmacogenomics to personalize β-blocker therapy and improve hypertension management, despite challenges related to high costs, limited infrastructure, the lack of clinical guidelines, and population heterogeneity.