Leber's Hereditary Optic Neuropathy (LHON)
Leber's hereditary optic neuropathy (LHON) is a rare and debilitating mitochondrial disorder, primarily impacting the optic nerve and leading to significant vision loss. Our company stands at the forefront of providing unparalleled support in the realm of rare diseases, including LHON. We offer a comprehensive one-stop service, meticulously tailored to meet the unique needs of researchers and scientists dedicated to the study of rare diseases.
Overview of LHON
LHON is a relatively rare condition, with an estimated prevalence of about 1 in 30,000 to 50,000 individuals in Northern Europe. This rare disorder typically manifests during young adulthood and predominantly affects males. The hallmark of LHON is severe bilateral sequential vision loss, stemming from the selective degeneration of retinal ganglion cells (RGCs). These cells undergo mitochondrial dysfunction, oxidative stress, and apoptosis, which culminate in the optic nerve degeneration and consequent vision loss characteristic of LHON.
Fig.1 Optic disc findings and funduscopic findings in LHON. (Takai, Y., et al., 2024)
Pathogenesis of LHON
At the molecular level, the pathogenesis of LHON is rooted in mutations of mitochondrial DNA. These mutations particularly affect genes encoding subunits of complex I of the mitochondrial respiratory chain. Among the most common mutations associated with LHON are those in the ND1, ND4, and ND6 genes. These genetic aberrations disrupt the normal functioning of complex I, leading to impaired energy production and escalated reactive oxygen species (ROS) production within RGCs.
Fig.2 Summary of structural and functional changes in LHON. (Chow-Wing-Bom, H. T., et al., 2022)Therapeutics Development of Alpha-Mannosidosis
| Therapies | Names/Types | Mechanism of Action | Targets | Research Phase |
|---|---|---|---|---|
| Gene Therapy | GS010 | Introduce an unmutated MT-ND4 gene into the RGC mitochondria | MT-ND4 | Clinical trials |
| Antioxidants | Idebenone | Increase mitochondrial respiration and reduce ROS | Electron Transport Chain | Approved |
| EPI-743 | A para-benzoquinone that replenishes glutathione stores | Glutathione | Clinical trials | |
| Anti-apoptosis | Cyclosporine | Inhibits the opening of the mitochondrial permeability transition pore | Calcineurin | Clinical trials |
| Brimonidine | An α-2 agonist | α-2 | Clinical trials | |
| Stem Cell Therapy | SCOTS2 | Give autologous stem cell concentrate | / | Preclinical research |
Our Services
Our expertise and experience in this field allow us to understand the specific challenges and requirements associated with LHON research. By animal model and therapeutic development platform of our company, enables researchers to study disease mechanisms, evaluate potential therapeutic interventions, and understand the impact on visual function.
Therapy Development Platforms
Animal Models of LHON
Animal models are indispensable for elucidating the molecular mechanisms underlying LHON, understanding disease progression, and evaluating potential therapeutic interventions. Our company offers an extensive array of animal models specifically designed to provide profound insights into the pathogenesis of LHON and to further the development of therapy strategies.
Chemical-induced Models
Chemical induction models of LHON involve the administration of specific chemicals or substances that induce mitochondrial dysfunction and mimic certain aspects of the disease.
Optional Models: Rotenone-induced model; Sodium azide-induced model, etc.
Genetically Engineered Models
These models involve the use of genetic engineering techniques such as CRISPR/Cas9introduction of specific human mitochondrial DNA mutations associated with LHON into the animal genome.
Optional Models: LHON mutant 13997GNA model, etc.
Why Choose Us
With our comprehensive one-stop service including pharmacokinetic study and biosafety evaluation, researchers can focus on advancing their understanding of LHON while benefiting from our extensive support, expertise, and resources.
If you are interested in learning more about our services and how we can support your research endeavors, please do not hesitate to reach out to us for further information.
References
- Takai, Yasuyuki et al. "Leber's hereditary optic neuropathy." Clinical neurology 64.5 (2024): 326-332.
- Chow-Wing-Bom, Hugo T et al. "Neuroimaging in Leber Hereditary Optic Neuropathy: State-of-the-art and future prospects." NeuroImage Clinical 36 (2022): 103240.
- Chen, Benson S et al. "Developments in the Treatment of Leber Hereditary Optic Neuropathy." Current neurology and neuroscience reports 22.12 (2022): 881-892.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.