Spinal Muscular Atrophy (SMA) In Vitro Assay Services

Spinal Muscular Atrophy (SMA) is a genetic disease that causes degeneration of motor neurons, leading to muscle weakness and atrophy. It is caused by mutations in the SMN1 gene, resulting in reduced levels of survival motor neuron (SMN) protein. SMA has been classified into different types based on the age of onset and severity of symptoms. Currently, there is no cure for SMA, but there are several therapies under development that target SMN protein levels. Creative Biolabs offers a range of in vitro assays to support SMA drug development.

iPSC-derived Motor Neuron-based SMA Assay

Induced pluripotent stem cells (iPSCs) can be differentiated into motor neurons, providing a valuable tool for SMA drug development. Creative Biolabs offers an iPSC-derived motor neuron SMA assay that can be used to evaluate the efficacy and toxicity of drug candidates. In this assay, iPSCs from SMA patients are differentiated into motor neurons and then treated with test compounds. The effects on SMN protein levels, motor neuron survival, and functional endpoints, such as neurite outgrowth and electrophysiological properties, can be assessed.

Fig.1 General Protocol for Neuron Production. (Faye, 2020)

SMA Copy Number Assay

SMA is caused by deletions or mutations in the SMN1/SMN2 gene. Therefore, assessing the copy number of SMN1/SMN2 is important for SMA diagnosis and prognosis. Creative Biolabs offers an SMA copy number assay that can accurately quantify the copy number of SMN1/SMN2 gene using qPCR.

Fig.2 Flow diagram for determination of SMN2 copy. (Kumar,2021)

SMA High-Throughput Phenotypic Screening Assay

High-throughput screening (HTS) assays can accelerate drug discovery by allowing the screening of large compound libraries. Creative Biolabs offers an SMA HTS assay that uses a phenotypic screening approach to identify compounds that increase SMN protein levels or improve motor neuron survival. In this assay, motor neurons are treated with a compound library, and the effects on SMN protein levels and motor neuron survival are assessed using automated imaging and analysis systems.

Fig.3 Screening Protocol for qHTS.

SMA Therapeutic Targets-based Antibody Development

The main therapeutic targets for SMA are SMN1 and SMN2 genes. SMN1 is the primary gene that produces SMN protein, while SMN2 produces a smaller amount of functional SMN protein due to alternative splicing. Therefore, increasing SMN protein levels by targeting SMN2 splicing is a potential therapeutic approach. Creative Biolabs also provide SMA therapeutic antibody development service which covers all these steps and can be customized to meet the specific needs of each project.

Customized Assay Development

Creative Biolabs offers customized assay development to meet the specific needs of individual research projects. This ensures that the most appropriate assays are used to screen for compounds that are most relevant to the specific research question. With our expertise, customization, efficiency, and quality control, we are committed to providing high-quality service to our clients and advancing the field of SMA drug discovery. Get in touch with us today to find out more about our SMA assay services.

References

1. Faye, Pierre-Antoine, et al. "Optimized protocol to generate spinal motor neuron cells from induced pluripotent stem cells from charcot marie tooth patients." Brain Sciences 10.7 (2020): 407.
2. Kumar, Binod, et al. "Novel modification of a confirmatory SMA sequencing assay that can be used to determine SMN2 copy number." International Journal of Neonatal Screening 7.3 (2021): 47.