Wilson-Turner Syndrome (WTS)
Wilson-Turner syndrome (WTS) is an uncommon X-linked genetic neurodevelopmental disorder resulting from alterations in the MTM1 gene. Protheragen is actively developing novel therapies to improve WTS management, building upon our WTS research initiatives. As a collaborator in WTS therapeutics development research, we guarantee incomparable assistance to fulfill your research goals.
Overview of Wilson-Turner Syndrome (WTS)
Wilson-Turner syndrome (WTS) is an uncommon disorder that is both neurodevelopmental and linked to the X chromosome, mainly impacting males. It manifests through a triad of symptoms: intellectual disability, endocrine dysfunction, alongside various specific dysmorphic features. This condition was initially documented in 1991 and, due to its scarcity, has received minimal research attention, with less than 50 cases documented in the medical literature.
| Clinical Presentation | Description |
| Neurocognitive Deficits | Moderate to severe intellectual disability, delayed speech and motor development, behavioral phenotypes. |
| Endocrine and Metabolic Disturbances | Obesity, hypogonadism and gynecomastia, short stature due to growth hormone (GH) axis dysregulation. |
| Dysmorphic Features | Coarse facial features, tapered fingers, short metacarpals, and joint hypermobility. |
Pathogenesis of Wilson-Turner Syndrome (WTS)
Mutations in the MTM1 gene located at Xq28, which encodes a phosphoinositide phosphatase responsible for regulating PI3P, leads to the pathogenesis of Wilson-Turner syndrome (WTS). Deficient function of this gene results in impaired neuromuscular junction maintenance, defective endocrine signaling, and disrupted endocrine signaling. The result is the WTS symptoms, including intellectual disability, hypogonadism, obesity, and the rest.
Therapeutic Development for Wilson-Turner Syndrome (WTS)
| Drug Names | Mechanism of Action | Targets | Research Phase |
| PIK-III | Selective PI3-kinase (PI3K) inhibitor; reduces aberrant accumulation of phosphatidylinositol 3-phosphate (PI3P) caused by MTM1 mutations. | PI3K (Class III), VPS34 lipid kinase | Preclinical |
| Metformin | Activates AMP-activated protein kinase (AMPK); improves leptin sensitivity and mitigates obesity-related metabolic dysfunction. | AMPK, mitochondrial complex I | Approved |
Disclaimer: Protheragen focuses on providing preclinical research services. This table is for information exchange purposes only. This table is not a treatment plan recommendation. For guidance on treatment options, please visit a regular hospital.
Our Services
For effective oversight of Wilson-Turner syndrome (WTS), Protheragen provides complete diagnostic and therapeutic development services. We seek to create novel therapies which provide an answer to the substantial unattended clinical need by concentrating on the various molecular factors that cause WTS. Our specialists are able to build precise models of diseases which allow for thorough assessment of the safety, efficacy, and mechanisms involved in action of the potential therapeutic agents.
Therapeutic Development Services
By Mechanism of Action
Disease Model Development Services
In Vitro Model Development
- MTM1 Knockout Model: Complete or conditional knockout of the MTM1 gene (Xq28) to mimic human WTS mutations.
- MTM1 Point Mutation Model: Introduce patient-specific MTM1 missense mutations (e.g., G712D) using gene editing.
Specializing in comprehensive preclinical assessment, Protheragen offers professional pharmacodynamic (PD), pharmacokinetic (PK) and toxicology research services to accelerate the therapeutic development of Wilson-Turner syndrome (WTS). If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
- Ferrari M, Stagi S. Oxidative stress in Down and Williams-Beuren syndromes: an overview[J]. Molecules, 2021, 26(11): 3139.