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All Journal Biota Narra X
Nastiti Wijayanti
Department of Tropical Biology, Faculty of Biology, Universitas Gadjah Mada, Yogyakarta, Indonesia
Agriculture, Biological Sciences & Forestry Biochemistry, Genetics & Molecular Biology Chemistry Environmental Science Immunology & microbiology Materials Science & Nanotechnology Medicine & Pharmacology Physics Public Health

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Identification and structural characterization of F8 gene variants in Indonesian patients with nonsevere hemophilia A: Evidence from targeted next generation sequencing and in silico analyses Niken SN. Handayani; Suprianto Suprianto; Ni GAGC. Kirana; Indra Lesmana; Usi Sukorini; Nastiti Wijayanti; Rarastoeti Pratiwi
Narra X Vol. 4 No. 3 (2026): December 2026 (In Press)
Publisher : Narra Sains Indonesia

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.52225/narrax.v4i3.297

Abstract

Hemophilia A is a rare genetic disorder caused by deficiency of coagulation factor VIII resulting from pathogenic variants in the F8 gene. The aim of this study was to identify potential pathogenic variants using targeted next generation sequencing (NGS), followed by in silico structural and pathogenicity analyses. Genomic DNA extracted from saliva samples of 11 patients with nonsevere hemophilia A was analyzed using targeted sequencing of F8 exons 23–26, while targeted NGS was performed on two selected patients for broader variant detection. Identified variants were further evaluated using computational pathogenicity prediction and three-dimensional protein structural modeling. No variants were detected within exons 23–26. Nevertheless, targeted NGS identified a missense variant, c.2095A>G (p.Met699Val), in exon 13 in patient HM1 and a splice-site variant, c.1271+1G>A, in intron 8 in patient HM7. Variant assessment predicted that the variants were classified as likely pathogenic and pathogenic, respectively. Structural comparison between wild-type and mutant factor VIII proteins showed no major differences in overall conformation, secondary structure, or ProMotif features. Nonetheless, physicochemical and atomic interaction analyses indicated local structural perturbations that may affect protein stability and function. These findings suggest that the identified F8 variants, particularly p.Met699Val, may contribute to factor VIII dysfunction despite preservation of the global protein structure. However, further validation using molecular dynamics simulations and functional experimental studies is required to clarify its structural impact and confirm pathogenicity.
Modulatory Effects of Fucoidan on Paracetamol-induced Hepatic Damage and Histological Alterations in Rasbora lateristriata Fajar Sofyantoro; Maula Haqul Dafa; Alfian Primahesa; Shintia Oktaviana; Olvita Mayani; Eben Ezer Simanungkalit; Anthera Al Firdaus Prissandi; Ardaning Nuriliani; Bambang Retnoaji; Hendry T. S. S. G. Saragih; Zuliyati Rohmah; Slamet Widiyanto; Nastiti Wijayanti; Nur Indah Septriani
Biota Vol 12 No 1 (2026): Jurnal Biota 2026
Publisher : Faculty of Science and Technology Universitas Islam Negeri Raden Fatah Palembang

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.19109/biota.v12i1.27845

Abstract

Paracetamol overdose is a well-documented cause of hepatic injury across vertebrate species, including teleost fish. This study aimed to evaluate the hepatoprotective potential of fucoidan, a sulfated polysaccharide derived from brown algae, against paracetamol-induced liver damage in Rasbora lateristriata. Fish were divided into five experimental groups and exposed to paracetamol (3 mg/L), either alone or in combination with fucoidan at concentrations of 50, 100, or 300 µg/mL, for seven days. Histopathological evaluation of liver tissues was performed using hematoxylin–eosin staining, with semi-quantitative scoring focused on hydropic degeneration, nuclear pyknosis, and necrosis. The results demonstrated that paracetamol exposure induced moderate hepatocellular injury, characterized by cytoplasmic vacuolization, apoptotic nuclear alterations, and necrotic lesions. Co-treatment with fucoidan at 300 µg/mL was associated with reduced severity across all histopathological parameters, indicating partial hepatoprotective effects. In contrast, the 50 µg/mL fucoidan group exhibited paradoxically severe hydropic degeneration despite the absence of pyknosis and necrosis, suggesting a delayed or altered injury profile. Intermediate outcomes were observed at 100 µg/mL. Overall, fucoidan exhibited dose-dependent but inconsistent hepatoprotective effects. The observed histological variability across concentrations suggests that protection may be influenced by factors such as bioavailability, cellular uptake, or interactions with intracellular stress pathways. These findings highlight the need for further mechanistic investigations before fucoidan can be considered a reliable hepatoprotective agent in aquatic toxicology.
Co-Authors Alfian Primahesa Anthera Al Firdaus Prissandi Ardaning Nuriliani Bambang Retnoaji Eben Ezer Simanungkalit Fajar Sofyantoro Hendry T. S. S. G. Saragih Indra Lesmana Maula Haqul Dafa Ni GAGC. Kirana Niken SN. Handayani Nur Indah Septriani Olvita Mayani Rarastoeti Pratiwi Shintia Oktaviana Slamet Widiyanto Suprianto Suprianto Usi Sukorini Zuliyati Rohmah