Journal of Environmental Biology

Functional gene analysis in Tay-Sachs disease using enrichment tools

B. Anil Kishore¹*, P.N. Reddy², B. Aarthi¹, S. Vasishta¹ and T. Amulya¹     

¹Department of Biochemistry, Apollo Institute of Medical Sciences and Research Chittoor, Murukambattu, Chittoor-517127, India

²Department of Psychiatry, Apollo Institute of Medical Sciences and Research Chittoor, Murukambattu, Chittoor-517127, India

Received: 29 November 2025                   Revised: 04 May 2026                   Accepted: 13 May 2026

*Corresponding Author Email: anilkishore_b@aimsrchittoor.edu.in                  *ORCiD: https://orcid.org/0000-0003-1990-7297

Abstract

Aim: Tay-Sachs disease is a rare autosomal recessive neuro-degenerative disorder arising from β-Hexosaminidase A deficiency, predominantly affecting consanguineous families. Given limited molecular-level characterisation, this study aimed to functionally annotate disease-associated genes, delineate fundamental pathways, regulatory elements, and metabolite and co-disease interactions.

Methodology: Tay-Sachs-associated genes were retrieved from DisGeNET (CUI: C0039373) via Enrichr. Gene Ontology (2025) facilitated annotation across molecular function, biological process, and cellular component categories. Pathway associations were identified using Reactome (2024), transcription factor linkages via ChEA, metabolite associations through HMDB, and co-disease mapping via DisGeNET. A significance threshold of p < 0.05 was applied throughout.

Results: Key genes including GLB1, HEXB, HEXA, GM2A, NEU3 and NEU4 were enriched for ganglioside and glycosphingolipid catabolism, hexosaminidase activity and glycoside hydrolase activity, predominantly localising to lysosomal and vacuolar compartments. Transcription factors SOX2, IRF8 and NANOG were linked to pluripotency and immune pathways. Metabolite profiling implicated gangliosides, reinforcing dysregulation within sphingolipid metabolic pathways.

Interpretation: This integrative bioinformatic analysis consolidates the molecular and metabolic architecture of Tay-Sachs disease, identifying key genetic and regulatory contributors that may serve as a foundation for future experimental validation.

Key words: GM2 gangliosidosis, Hexosaminidase-A deficiency, Lysosomal storage disorder, Sphingolipidosis

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