Journal of Environmental Biology

Bioinformatic analysis of gene networks and molecular pathways in Lesch-Nyhan Syndrome: A comprehensive enrichment study

Alfred J. Augustine¹*, A. Sripriya², B. Preethi³, S.B. Akshitha⁴ and S. Vasishta⁴     

¹Department of General Surgery, Apollo Institute of Medical Sciences and Research Chittoor, Murukambattu - 517 127, India

²Department of Microbiology, Apollo Institute of Medical Sciences and Research Chittoor, Murukambattu - 517 127, India

³Department of Dermatology, Apollo Institute of Medical Sciences and Research Chittoor, Murukambattu - 517 127, India

⁴Department of Biochemistry, Apollo Institute of Medical Sciences and Research Chittoor, Murukambattu - 517 127, India

Received: 29 November 2025                   Revised: 04 May 2026                   Accepted: 30 May 2026

*Corresponding Author Email: alfred_augustine@aimsrchittoor.edu.in                  *ORCiD: https://orcid.org/0000-0002-8393-9843

Abstract

Aim: Lesch–Nyhan syndrome (LNS) is a rare X-linked recessive disorder caused by hypoxanthine-guanine phosphoribosyl transferase deficiency, resulting in neurological dysfunction, cognitive impairment, and self-injurious behaviour. Despite longstanding clinical characterisation, molecular networks linking purine metabolism defects to systemic manifestations remain poorly understood. This study aimed to define the functional characteristics, pathway associations, transcriptional regulation, and tissue-specific expression patterns of LNS-associated genes.

Methodology: Ten LNS-implicated genes retrieved from GeneCards were analysed via Enrichr. Gene Ontology (GO) 2025 characterised biological processes, molecular functions, and cellular components. Reactome 2024 identified pathway interactions, ChEA predicted transcription factor regulation, HMDB mapped metabolite associations, and GTEx assessed tissue-specific expression. A significance threshold of p < 0.05 was applied.

Results: Enrichment analyses highlighted the key roles in purine metabolism, urate transport, dopamine regulation, and nucleotide biosynthesis. Implicated genes were associated with metabolic enzymes, neurotransmitter balance, and lipoprotein particle components. Transcription factor analysis identified regulatory elements governing gene expression, whilst tissue-specific patterns indicated neurological and metabolic involvement.

Interpretation: This integrative analysis connects purine metabolic dysregulation with the complex neurological and systemic features of LNS, proposing potential molecular targets warranting further preclinical investigation for therapeutic development.

Key words: Bioinformatics, Gene enrichment analysis, HPRT1 deficiency, Lesch-Nyhan syndrome, Purine metabolism

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