Prader-Willi Syndrome
Prader-Willi syndrome is a multifaceted genetic disorder with a spectrum of manifestations that impact various physiological and cognitive functions, including hyperphagia, hypotonia, cognitive impairment, and a gamut of psychiatric disturbances. Our company stands at the forefront of innovation in rare diseases, offering unique one-stop comprehensive services tailored to researchers and scientists in this specialized field.
Overview of Prader-Willi Syndrome
In its essence, Prader-Willi syndrome stands as a rarity within the realm of neurodevelopmental disorders, affecting a relatively sparse ratio of 1 in 20,000 individuals. The symptoms encompass feeble muscle tone (hypotonia), feeding tribulations during infancy, stunted growth, and an insatiable hunger that tends to culminate in obesity. Individuals with Prader-Willi syndrome are often marked by cognitive impediments, behavioral intricacies, and distinctive physical attributes.
Fig.1 Overview of the chr15q11-q13 region. (Chung, M. S., et al., 2020)
Pathogenesis of Prader-Willi Syndrome
Comprehensively, Prader-Willi syndrome arises from the malfunction or absence of specific genes situated in a delimited sector of chromosome 15. The underpinning genetic anomalies that prompt Prader-Willi syndrome chiefly coalesce around three core mechanisms:
- Paternal Deletion:
The most common defect surfaces as a deletion within the paternal 15q11-q13 region, besieging approximately 60% of afflicted individuals.
- Uniparental Disomy:
This is followed by maternal disomy 15, where both chromosome 15 elements stem from the maternal lineage, composing around 35% of cases.
- Imprinting Defect:
The residual cadre showcases an anomaly in the imprinting center, which regulates the function of imprinted genes on chromosome 15.
Fig.2 The loss of the chr15q11-q13 region. (Chung, M. S., et al., 2020)Diagnostics Development of Prader-Willi Syndrome
The diagnostic progress of Prader-Willi syndrome has evolved significantly over the years, primarily due to advancements in genetic testing and increased awareness of the condition. Techniques such as fluorescence in situ hybridization (FISH), methylation-specific PCR, and chromosomal microarray analysis are used to detect genetic abnormalities.
Fig.3 Workflow for Prader-Willi syndrome diagnosis. (Chung, M. S., et al., 2020)Therapeutics Development of Prader-Willi Syndrome
| Drug Names | Mechanism of Action | Targets | Research Phase |
|---|---|---|---|
| Beloranib | Inhibit METAP2 by removing methionine residue from proteins | METAP2 | Phase III trials |
| Setmelanotide | An MC4R agonist that impacts satiety and feeding centers to decrease eating | MC4R | Approved |
| DCCR | A benzothiadiazine that acts by stimulating an ion flux through KATP | Potassium channel | Phase II trials |
| Livoletide | Decrease the amount of active ghrelin in the brain | Ghrelin | Phase III trials |
| Oxytocin | Oxytocin receptor agonists | OXTR | Approved |
| Exenatide | GLP-1 receptor agonists | GLP-1 receptor | Phase III trials |
Our Services
With advanced animal models and therapeutic development platforms, we empower researchers and scientists to navigate the complexities of Prader-Willi syndrome with efficiency and precision, ultimately driving progress toward improved diagnostics, therapeutics, and outcomes for individuals affected by this condition.
Therapeutics Development Platforms
Animal Models of Prader-Willi Syndrome
Animal models serve as invaluable tools for investigating the underlying mechanisms of the disorder, testing potential therapeutic interventions, and delving into the intricate genetic and behavioral interactions that define Prader-Willi syndrome. Our company offers a variety of animal models for you to study the pathogenesis and potential therapeutics for genetic disorders.
Genetic engineering models with a deletion of the gene associated with Prader-Willi syndrome, such as Necdin, Mkrn3, and Magel2, etc., exhibit characteristics such as hyperphagia, obesity, and abnormal social behaviors.
Optional Models: Necdin deficient model; Magel2 KO model, etc.
Why Choose Us
Our multidisciplinary approach including pharmacokinetic studies and drug safety evaluation fosters collaboration and accelerates breakthroughs. With a deep commitment to advancing knowledge and solutions for rare genetic disorders, we provide a scheme that encompasses everything from cutting-edge research tools and resources to expert consultation services.
If you are interested in our services, we invite you to reach out to us for detailed insights and comprehensive quotations on the array of services we provide.
References
- Chung, Michael S et al. "Prader-Willi syndrome: reflections on seminal studies and future therapies." Open biology 10.9 (2020): 200195.
- Mahmoud, Ranim et al. "Clinical Trials in Prader-Willi Syndrome: A Review." International journal of molecular sciences 24.3 (2023): 2150.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.