Spinal Muscular Atrophy (SMA)
Spinal muscular atrophy (SMA) is a genetic disorder that affects the motor neurons in the spinal cord, leading to muscle weakness and atrophy. Our company, with its rich expertise in rare disease diagnosis and therapy, stands ready to support your research of SMA.
Overview of SMA
The hallmark of SMA is the progressive degeneration of motor neurons in the spinal cord, causing a loss of muscle control, movement difficulties, and respiratory complications. The incidence of SMA is estimated to be around 1 in 10,000 to 20,000 live births, making it a relatively rare but serious condition. SMA is categorized into different types based on the age of onset and severity of symptoms, with type I being the most severe and typically presenting in infancy, while type IV is the mildest form and often diagnosed in adulthood.
Fig.1. History of SMA. (Nishio, H., et al., 2023)Pathogenesis of SMA
SMA is caused by a mutation in the SMN1 gene, which is responsible for producing the survival motor neuron (SMN) protein crucial for motor neuron function and survival. The deficiency of the SMN protein due to the mutated SMN1 gene leads to the death of motor neurons, ultimately resulting in the characteristic muscle weakness and atrophy seen in SMA individuals.
Fig.2. Genetic basis of SMA. (Zilio, E., et al., 2022)Diagnostics Development of SMA
Genetic testing plays a crucial role in confirming the diagnosis of SMA and determining the specific subtype of the disease. The genetic test for SMA typically involves analyzing a blood sample or other genetic material to identify the specific mutation in the SMN gene. In addition, some biomarkers emerge as a promising frontier, offering invaluable insights into disease progression and therapy response in SMA.
- SMN2 copy number
- SMN mRNA and protein levels
- neurofilament proteins (NFs)
- plasma protein analytes
- creatine kinase (CK)
- creatinine (Crn)
Therapeutics of SMA
Small Molecule Drug Therapy
Monoclonal Antibody Therapy
Gene Therapy
Our Services
From scheme design to therapy effect evaluation, our professional talents and cutting-edge technologies can provide comprehensive services encompassing mechanism research, therapeutic development, and animal model support tailored to your research needs.
Platforms of SMA Development
Animal Models of SMA
In the realm of research and development for SMA, leveraging animal models is crucial for understanding disease pathogenesis and evaluating potential therapeutic interventions. Our company can provide chemically induced or genetically engineered, help you understand the mechanisms underlying, and test new therapy approaches.
| Chemical-induced Models | ||
| Chemically induced models are achieved through drugs like ethyl methanesulfonate (EMS) to induce genetic mutations. | ||
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| Genetically Engineered Models | ||
| Genetically engineered models use transcription activator-like effector nucleases (TALENs) or CRISPR/Cas9 mediated SMN gene knockout. | ||
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| Optional Species | Mice, Rats, Zebrafish, Drosophila, Caenorhabditis elegans, Non-Human Primates, Others | |
By harnessing our resources and platforms, we can support your pharmacokinetics analysis and drug safety evaluation, aiming to advance the understanding and therapeutic of SMA. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
References
- Nishio, Hisahide et al. "Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment." International journal of molecular sciences 24.15 (2023): 11939.
- Zilio, Eleonora et al. "Mitochondrial Dysfunction in Spinal Muscular Atrophy." International journal of molecular sciences 23.18 (2022): 10878.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.