Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome is a rare type of progressive myoclonic epilepsy that typically begins in early childhood. It is characterized by myoclonic seizures, which are sudden, brief muscle jerks or twitches. Our company has professionals and advanced technology to provide comprehensive services tailored to support research efforts in the field of rare diseases.
Overview of Unverricht-Lundborg Syndrome
Unverricht-Lundborg syndrome is a rare genetic disorder with an incidence of about 4 / 100,000 individuals and characterized by progressive myoclonic epilepsy, also known as progressive myoclonic epilepsy type 1 (EPM1). Unverricht-Lundborg syndrome is inherited in an autosomal recessive manner, which is a type of epilepsy characterized by sudden, brief, and involuntary muscle jerks or twitches. Other common features of Unverricht-Lundborg syndrome include difficulties with coordination (ataxia), intention tremors (shaking during voluntary movements), and cognitive decline.
Fig.1 CSTB protein controls cell proliferation. (Singh, S., and Hamalainen, R. H., 2024)Pathogenesis of Unverricht-Lundborg Syndrome
The pathogenesis of Unverricht-Lundborg syndrome primarily stems from mutations in the CSTB gene, which encodes a protein called cystatin B. This protein plays a crucial role in regulating the activity of enzymes responsible for breaking down other proteins in the brain. When mutations occur in the CSTB gene, it disrupts the normal functioning of cystatin B and leads to the accumulation of misfolded proteins in the brain.
Fig.2 The structure of the CSTB gene and the locations of the reported mutations. (Singh, S., and Hamalainen, R. H., 2024)Diagnostics Development of Unverricht-Lundborg Syndrome
To diagnose Unverricht-Lundborg syndrome, molecular genetic testing is often employed to confirm the presence of mutations or deletions in the CSTB gene that are associated with the disorder. This testing methodology typically involves sequencing the CSTB gene to identify specific genetic alterations underlying Unverricht-Lundborg syndrome.
Therapeutics Development of Unverricht-Lundborg Syndrome
Small Molecule Drug Therapy
Commonly prescribed antiepileptic drugs such as valproic acid, clonazepam, perampanel, and levetiracetam have shown efficacy in controlling seizure activity through various mechanisms of action.
Oligonucleotide Therapy
Oligonucleotide therapeutics by utilizing oligonucleotides with locked nucleic acid (LNA) modifications, ultimately mitigating the cause of seizures in affected individuals of Unverricht-Lundborg syndrome.
Our Services
Our company integrates the best talents and the most advanced technical resources in the world. Our animal models and therapeutic development platform can meet the specific needs of researchers on the diagnosis and therapy of rare diseases.
Therapy Development Platforms
Animal Models of Unverricht-Lundborg Syndrome
Our company offers a variety of animal models for Unverricht-Lundborg syndrome to help researchers understand the molecular and cellular mechanisms underlying the disease and provide a platform for testing novel therapy approaches.
Using transgenic or gene-editing techniques such as CRISPR/Cas9 to enable animals to have genetic mutations associated with Unverricht-Lundborg syndrome or related diseases.
Optional Models: Cstbtm1Rm model; Cstbtm2Yah model, etc.
Why Choose Us
Our company provides you with one-stop services from disease mechanism research to innovative therapy development and effect evaluation, including pharmacokinetics analysis and drug safety evaluation.
If you are interested in learning more about our services and how we can support your research endeavors, please do not hesitate to reach out to us for further information.
References
- Singh, Shekhar, and Riikka H Hamalainen. "The Roles of Cystatin B in the Brain and Pathophysiological Mechanisms of Progressive Myoclonic Epilepsy Type 1." Cells 13.2 (2024): 170.
- Orsini, Alessandro et al. "The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy." Seizure 71 (2019): 247-257.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.