Lesch-Nyhan Syndrome
Lesch-Nyhan syndrome, a rare genetic disorder, is a result of the deficiency of the enzyme known as hypoxanthine-guanine phosphoribosyltransferase (HGPRT), leading to the accumulation of uric acid in the body. Our company excels in the realm of rare diseases like Lesch-Nyhan syndrome by offering unparalleled one-stop services tailored to researchers and scientists in this specialized field.
Overview of Lesch-Nyhan Syndrome
Lesch-Nyhan syndrome is inherited in an X-linked manner, and affects a relatively small proportion of the population, with approximately 1 in 380,000 individuals being diagnosed with this condition. This abnormal buildup of uric acid can have profound effects on an individual, manifesting in a range of neurological and behavioral symptoms that significantly impact their quality of life. The presentation of Lesch-Nyhan syndrome is characterized by a variety of neurological abnormalities, including involuntary muscle movements, developmental delays, and self-injurious behaviors.
Fig.1 Structural representation of HPRT1. (Reisz, J. A., et al., 2023)
Pathogenesis of Lesch-Nyhan Syndrome
The underlying cause of Lesch-Nyhan syndrome lies in the insufficient activity of the soluble cytoplasmic HGPRT enzyme, which is essential for converting degraded DNA into purine nucleotides through the purine salvage pathways within the body. Lesch-Nyhan syndrome is caused by the mutation of the HPRT1 gene located on the long arm of the X chromosome at the q26-27 position. The neurologic and behavioral manifestations of the disorder are due to dysregulation of dopamine and other neurotransmitters in the brain.
Fig.2 Analysis of Lesch-Nyhan syndrome associated HPRT1 variants. (Jang, G., et al., 2023)Therapeutics Development of Lesch-Nyhan Syndrome
| Types | Drug Names | Mechanism of Action | Targets | Research Phase |
|---|---|---|---|---|
| Small Molecule Drugs | Allopurinol | Inhibit the xanthine oxidase enzyme | Xanthine oxidase | Approved |
| Febuxostat | Xanthine oxidase inhibitor | Xanthine oxidase | Approved | |
| Fluphenazine | D1-receptor antagonist | D1-receptor | Approved | |
| 5-hydroxytryptophan | Precursor for the synthesis of serotonin | 5-HT receptor | Clinical research | |
| Immucillin-G | Inhibition of purine nucleoside phosphorylase (PNP) represents a different strategy for lowering urate. | PNP | Preclinical research | |
| Botulinum Toxin | BTX-A | Affect the central and peripheral nervous systems | SNAP25 | Approved |
| Gene Therapy | CRISPR-mediated base and prime editing | Gene correction | HPRT1 | Preclinical research |
Our Services
With our advanced animal models and therapeutic development platform, we ensure that researchers and scientists have the necessary tools and support to advance their investigations and make meaningful contributions to the understanding and therapy of conditions like Lesch-Nyhan syndrome.
Therapeutics Development Platforms
Animal Models of Lesch-Nyhan Syndrome
Animal models provide valuable insights into the disease mechanisms and are instrumental in underlying studies of potential therapies. Our company provides various animal models for you to further unravel the pathogenesis of Lesch-Nyhan syndrome and explore novel therapy strategies.
Creating chemical-induced animal models involves exposing animals to substances that disrupt specific pathways or processes related to the disorder, thereby inducing symptoms of Lesch-Nyhan syndrome.
Optional Models: 6-OHDA induced model, etc.
Genetic engineering has enabled the creation of animal models that mimic certain aspects of Lesch-Nyhan syndrome by introducing specific genetic mutations such as HPRT1 which are associated with the disorder.
Optional Models: HPRT1 knockout model, etc.
Why Choose Us
With our commitment to fostering collaboration, providing state-of-the-art facilities, and offering personalized assistance, our services aim to accelerate discoveries in the realm of rare genetic disorders. With a dedicated focus on rare diseases, we provide a comprehensive suite of resources and support including pharmacokinetic studies and drug safety evaluation to facilitate research endeavors.
If you are interested in our services, we invite you to reach out to us for further information.
References
- Reisz, Julie A et al. "Red Blood Cells from Individuals with Lesch-Nyhan Syndrome: Multi-Omics Insights into a Novel S162N Mutation Causing Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency." Antioxidants (Basel, Switzerland) 12.9 (2023): 1699.
- Jang, Gayoung et al. "Therapeutic gene correction for Lesch-Nyhan syndrome using CRISPR-mediated base and prime editing." Molecular therapy. Nucleic acids 31 (2023): 586-595.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.