Rett Syndrome (RTT)
Rett syndrome (RTT) is a rare neurodevelopmental disorder predominantly affecting females. Our company is dedicated to advancing research in RTT by providing comprehensive and customized services. Our team of highly skilled researchers and scientists specializes in the study of RTT, utilizing our expertise to develop state-of-the-art diagnostic tools and therapeutic drugs. We offer a wide range of tailored services to meet your specific scientific research needs, ensuring that we cater to your unique requirements in the field of RTT research.
Overview of RTT
RTT is a rare genetic neurological and developmental disorder that affects brain development. RTT occurs almost exclusively in girls and is characterized by a progressive loss of motor skills and language, leading to severe physical and cognitive disabilities. The reported incidence of RTT is approximately 1 in 23,000 live female births.
The development of RTT primarily stems from genetic mutations within specific genes. Roughly 90-95% of RTT cases are attributed to mutations found in the MECP2 gene, which is situated on the X chromosome. The MECP2 gene encodes the MeCP2 protein, which plays a crucial role in the regulation of gene activity within the brain. Its loss or dysfunction results in abnormal brain development and function, giving rise to the various symptoms observed in RTT. In a smaller subset of RTT cases (less than 10%), mutations in the CDKL5 or FOXG1 genes are also identified as contributing factors.
Fig.1 Pathogenesis of Rett syndrome (RTT). (Taherian, et al. 2016)Diagnostics Development of RTT
Medical Evaluation
A comprehensive evaluation of personal symptoms, disease history, and family history is the first step in RTT diagnosis. This will provide guidance for subsequent inspections.
Genetic Testing
Genetic testing is an accurate and effective way to diagnose RTT. RTT can be confirmed by detecting mutations in the MECP2 gene and other related genes.
Imaging Examination
Magnetic resonance imaging (MRI), computed tomography (CT), electroencephalography (EEG), and other examinations can also be used to help diagnose RTT and exclude diseases with similar symptoms to RTT.
Therapeutics Development of RTT
Therapy development for RTT aims to address the underlying genetic and neurological abnormalities associated with the condition, with the goal of improving symptoms and life quality for individuals affected by RTT. While there is currently no cure for RTT, significant efforts are being made to develop therapeutic strategies.
- Targeting MECP2
RTT is primarily caused by mutations in the MECP2 gene. Therapeutic approaches aim to target MECP2 and its related pathways to restore its normal function or compensate for its deficiency. Methods being explored include gene therapies, RNA-based therapies, and small molecules to modulate MECP2 expression or enhance its activity. - Enhancing Synaptic Function
RTT is associated with impaired synaptic function, leading to cognitive and neurological symptoms. Therapeutic development focuses on identifying drugs that can enhance synaptic transmission, plasticity, and connectivity. Strategies may involve targeting neurotransmitter systems, such as glutamatergic, GABAergic, or cholinergic pathways, to improve synaptic function and neural circuitry.
Our Services
Our company has established a comprehensive platform for rare disease diagnostics and therapy development, encompassing small molecule drug, cell therapy, gene therapy, therapeutic antibody, therapeutic peptide, and therapeutic protein. Through our dedicated platforms, we are fully devoted to advancing the development of innovative diagnostic tools and therapeutics for RTT.
Recognizing the significance of animal disease models in the development of therapeutics for RTT, we offer our expertise in establishing mouse models specifically tailored for RTT, such as MeCP2 gene knockout mouse models (MeCP2Bird, MeCP2308, MeCP2lox). These models serve as invaluable tools to facilitate safety evaluation and pharmacokinetics study of your drug candidates.
If you are interested in our services, please don't hesitate to contact us for more information and a detailed quotation regarding the specific services you require.
References
- Taherian, Mahdi, et al. "The Relationship BetweenSkewed X-Chromosome Inactivation and Neurological Disorders Development: A Review." International Clinical Neuroscience Journal 3.2 (2016): 81-91.
- Sandweiss, Alexander J., Vicky L. Brandt, and Huda Y. Zoghbi. "Advances in understanding of Rett syndrome and MECP2 duplication syndrome: prospects for future therapies." The Lancet Neurology 19.8 (2020): 689-698.
- Vashi, Neeti, and Monica J. Justice. "Treating Rett syndrome: from mouse models to human therapies." Mammalian Genome 30 (2019): 90-110.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.
