Year: 2026
Type: article
Abstract: Aim: This study aimed to investigate the genetic variations, protein-protein interactions, and functional involvement of HTRA2 in mitochondrial homeostasis and apoptosis, with a focus on its potential contribution to Parkinson's disease (PD) pathology.Methods: Genetic variations in HTRA2 were identified using dbSNP, SWISS-Prot, and ClinVar.Protein-protein interaction (PPI) analysis was performed using STRING and GeneMANIA.Gene expression data were obtained from UniProt, BioXpress, and GTEx, and pathway analysis was conducted using KEGG.Disease associations were identified through the DISEASES database.Results: HTRA2 was found to interact strongly with apoptosis-related proteins, including DIABLO, XIAP, BIRC2, and BIRC3.It exhibited high expression in brain regions crucial for neuronal survival.Nine missense mutations were identified as potentially pathogenic.KEGG pathway analysis linked HTRA2 to mitochondrial dysfunction and apoptosis.Additionally, associations with Alzheimer's disease, essential tremor, and cancer were observed.Conclusion: HTRA2 plays a critical role in maintaining mitochondrial quality control and regulating apoptosis.Its dysfunction may contribute to PD pathogenesis by promoting neuronal death.These findings suggest that HTRA2 may represent a promising therapeutic target for PD and related neurodegenerative disorders.
DOI: 10.4328/acam.22741
Institutions: Sağlık Bilimleri Üniversitesi, Beykent University
Language: English
Subfield: Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W7139997401