ArticleMolecular neurobiology2023
HPRT1 Deficiency Induces Alteration of Mitochondrial Energy Metabolism in the Brain.
Article in Molecular neurobiology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 29 citations in OpenAlex.
- HPRT1 drives mitochondrial metabolic reprogramming and immunosuppressive microenvironment in oral squamous cell carcinoma.Apoptosis : an international journal on programmed cell death · 2026Article
- Nucleotide Metabolism in Health and Disease.MedComm · 2026Review
- Therapeutic potential of traditional Chinese medicine for hyperuricemia: mechanistic insights and clinical prospects.Frontiers in pharmacology · 2026Review
- Enhancement of Energy Metabolism in Skeletal Myocytes Protects Against Age-Related Sarcopenia.Journal of cellular and molecular medicine · 2025Article
- Purine Metabolism and Dystonia: Perspectives of a Long-Promised Relationship.Annals of neurology · 2025Review
- The Role of Purine Metabolism and Uric Acid in Postnatal Neurologic Development.Molecules (Basel, Switzerland) · 2025Review
- Charcot Marie Tooth disease pathology is associated with mitochondrial dysfunction and lower glutathione production.Cellular and molecular life sciences : CMLS · 2025Article
- Cytoprotective Action of Sodium Fumarate in anSovremennye tekhnologii v meditsine · 2025Article
- Metformin improves HPRT1-targeted purine metabolism and repairs NR4A1-mediated autophagic flux by modulating FoxO1 nucleocytoplasmic shuttling to treat postmenopausal osteoporosis.Cell death & disease · 2024Article
- Cell-Permeable HSP70 Protects Neurons and Astrocytes Against Cell Death in the Rotenone-Induced and Familial Models of Parkinson's Disease.Molecular neurobiology · 2024Article
- SCG5 and MITF may be novel markers of copper metabolism immunorelevance in Alzheimer's disease.Scientific reports · 2024Article
- Comprehensive blood metabolomics profiling of Parkinson's disease reveals coordinated alterations in xanthine metabolism.NPJ Parkinson's disease · 2024Article
- A new physiological medium uncovers biochemical and cellular alterations in Lesch-Nyhan disease fibroblasts.Molecular medicine (Cambridge, Mass.) · 2024Article
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
Abstract
Alterations in function of hypoxanthine guanine phosphoribosyl transferase (HPRT), one of the major enzymes involved in purine nucleotide exchange, lead to overproduction of uric acid and produce various symptoms of Lesch-Nyhan syndrome (LNS). One of the hallmarks of LNS is maximal expression of HPRT in the central nervous system with the highest activity of this enzyme in the midbrain and basal ganglia. However, the nature of neurological symptoms has yet to be clarified in details. Here, we studied whether HPRT1 deficiency changes mitochondrial energy metabolism and redox balance in murine neurons from the cortex and midbrain. We found that HPRT1 deficiency inhibits complex I-dependent mitochondrial respiration resulting in increased levels of mitochondrial NADH, reduction of the mitochondrial membrane potential, and increased rate of reactive oxygen species (ROS) production in mitochondria and cytosol. However, increased ROS production did not induce oxidative stress and did not decrease the level of endogenous antioxidant glutathione (GSH). Thus, disruption of mitochondrial energy metabolism but not oxidative stress could play a role of potential trigger of brain pathology in LNS.
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