Spinal Muscular Atrophy

SMA represents a genetic neuromuscular disease characterized by motor neuron degradation that results in muscle weakness coupled with muscle wasting. The disorder shows up during infancy or early childhood and presents with different levels of severity while lacking treatment can cause premature death.

Protheragen spearheads SMA research initiatives by collaborating with leading scientists to expand knowledge about the disease. Our research efforts concentrate on developing therapeutic solutions targeting the genetic and molecular bases of SMA.

Characteristics of Spinal Muscular Atrophy

The clinical symptoms of SMA show variability in severity across different patients. Progressive muscle weakness and atrophy define SMA while causing substantial mobility problems and severe respiratory difficulties in critical situations. SMA targets the voluntary muscles which control movement and respiratory functions. The severity of SMA depends on the SMN2 gene while genetic mutations in the SMN1 gene serve as the primary cause of the disease. Understanding SMA variability and progression requires understanding its genetic components.

Advancements in Diagnosis and Treatment

Diagnostics Progress

Genetic Testing: Real-time PCR for SMN1/SMN2 gene mutations is the standard for diagnosing SMA.
Newborn Screening: Early detection through SMN1 gene variation tests in blood samples.
Clinical Evaluation: Muscle biopsy and nerve studies for assessing neuromuscular function.

Treatment Advances

Gene Therapy: Nusinersen and Zolgensma effectively increase SMN protein levels.
Supportive Care: Respiratory, nutritional, and physical therapies improve life quality.
Future Directions: Exploring non-gene therapies and new drug targets for SMA.

Fig. 1 Cytoskeleton dysfunction of motor neurons in spinal muscular atrophy. (Shi T, et al., 2024)

Our Services

Diagnostic Method Development Services for SMA

Genetic Screening: Protheragen employs high-throughput sequencing and qPCR to quantify SMN1 copies, facilitating early SMA diagnosis. Newborn and carrier screenings are crucial for early intervention.
Phenotypic Analysis: Automated imaging assesses motor neuron survival and function, while the six-minute walk test evaluates patient mobility.

Therapy Development Services for SMA

Drug and Gene Therapy: Focus on boosting SMN protein and neuron protection. Promising gene therapies include AAV9-mediated gene replacement.
Emerging Strategies: Targeting Cdk5 activity offers new treatment potential. Combining SMN-dependent and independent therapies may improve outcomes.

Model Development Services for SMA

Animal Models: Utilize mouse models by knocking out or knocking in SMN1 genes to replicate SMA and study its pathophysiology. Fruit fly models express a single SMN homolog to examine neurodegenerative effects.
Cell Models: Develop neurons from patient-derived iPSCs to explore SMN protein function and regulatory mechanisms in vitro.

Protheragen leads pioneering research efforts to develop new solutions for Spinal Muscular Atrophy (SMA). Reach out to us now to learn how our extensive services can bolster your research efforts and create significant breakthroughs in SMA treatment research.

Reference

Shi T, et al. Cytoskeleton dysfunction of motor neuron in spinal muscular atrophy. J Neurol. 2024 Dec 12;272(1):19.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.

Related Disease Solutions