Ferbian Milas Siswanto
Department of Chemistry and Biochemistry, School of Medicine and Health Sciences, Atma Jaya Catholic University of Indonesia, Jakarta, Indonesia

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Genetic analysis of exon 3 of the leptin gene associated with reproductive traits in sheep (Ovis aries) based on GenBank DNA sequences Hendro Sukoco; Agung Budiyanto; Aris Haryanto; Erif Maha Nugraha Setyawan; Suriansyah; Annisa Putri Cahyani; Salmin; Ferbian Milas Siswanto
Jurnal Medik Veteriner Vol. 9 No. 1 (2026): April
Publisher : Universitas Airlangga

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.20473/jmv.vol9.iss1.2026.190-202

Abstract

Polymorphisms in exon 3 of the leptin gene have been linked to reproductive and production traits in sheep. However, comprehensive in silico studies that combine comparative sequence analysis, phylogenetic relationships, gene expression profiling, and protein–protein interaction (PPI) networks across various sheep breeds remain limited. A total of 21 sheep leptin DNA sequences were extracted from NCBI GenBank. The leptin DNA sequences were aligned using BioEdit to identify single nucleotide polymorphisms (SNPs) and amino acid changes. Phylogenetic relationships among various sheep breeds were analyzed using Clustal Omega version 1.2.4. Leptin gene expression in sheep was analyzed using the Expression Atlas database, and leptin protein interactions with other proteins were evaluated using the STRING platform. The results showed that the leptin gene is highly expressed in the hypothalamus and moderately expressed in reproductive organs, highlighting its important role in regulating energy metabolism and reproductive function. Protein–protein interaction (PPI) analysis using STRING revealed a strong interaction between leptin and its receptor, which activates key signaling pathways, including the JAK2–STAT3, PI3K, and MAPK pathways. Genetic analysis revealed a predominance of missense mutations over silent mutations, with SNPs g.92G>A (Arginine→Glutamine) and g.208G>T (Valine→Leucine) appearing consistently across several breeds. Phylogenetic analysis also revealed substantial genetic diversity among sheep breeds, with clustering patterns reflecting distinct evolutionary origins. These findings demonstrate that integrating comparative genomics with functional bioinformatics analyses provides deeper insight into leptin exon 3 variation and serves as a comprehensive in silico framework for future functional validation and association studies in sheep.
In Silico Analysis of miRNA in Type 2 Diabetes Mellitus and Colorectal Cancer: Molecular Connections and Biomarker Potential Alexander Ryan Wihardja; Ana Lucia Ekowati; Ferbian Milas Siswanto
Journal of Urban Health Research Vol. 4 No. 2 (2026): Journal of Urban Health Research
Publisher : School of Medicine and Health Sciences, Atma Jaya Catholic University of Indonesia

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.25170/juhr.v4i2.7497

Abstract

Introduction: Type 2 diabetes mellitus (T2DM) is a chronic metabolic disorder characterized by hyperglycemia caused by insulin resistance and impaired insulin secretion, affecting 537 million adults worldwide in 2021 and projected to reach 783 million by 2045. T2DM increases the risk of malignancies, particularly colorectal cancer (CRC). MicroRNAs (miRNAs), small non-coding RNAs regulating gene expression, have emerged as molecular links between T2DM and CRC through their roles in proliferation, apoptosis, metabolism, and insulin signaling. Shared pathways, including PI3K/AKT/mTOR and IGF-1 signaling, support common pathogenic mechanisms. Due to their stability and disease-specific expression, miRNAs represent promising biomarkers. This study employs an in silico bioinformatics approach to identify shared dysregulated miRNAs, predict their target genes, analyze relevant molecular pathways, and evaluate their regulatory roles connecting T2DM with CRC development. Methods: This study employed an in silico approach using miRNA expression data from GEO datasets (GSE262614, GSE185845, GSE115513, GSE156732), analyzed with R under the criteria |Log2FC| > 1 and p < 0.05. Differentially expressed miRNAs from each dataset were compared using a Venn diagram to identify consistently dysregulated miRNAs. Target gene prediction was conducted using miRTargetLink 2.0 and miRWalk, followed by validation with mRNA datasets GSE25724 and GSE44076. Pathway enrichment analyses were performed using GO and KEGG through ShinyGO and Enrichr Results:  Analysis revealed that hsa-miR-182-3p was the only miRNA consistently experiencing upregulation in both T2DM and colorectal cancer. From hsa miR-182-3p a total of 9 validated target genes were identified, and most of them are involved in MAPK, mTOR, cell cycle, and insulin signaling pathways which are key pathways implicated in both diseases. Conclusion: This study indicates that hsa-miR-182-3p may serve as a molecular mediator linking the pathophysiological mechanisms of T2DM, such as insulin resistance and hyperinsulinemia, with colorectal cancer tumorigenesis, and may hold potential as a biomarker.