Neuromuscular diseases conditions that impair the functioning of the muscles, either directly or indirectly via the neuromuscular junctions.
Spasticity is associated with increased muscle contraction, causing impaired movement and gait. The spasticity mouse used at Sylics presents symptoms of spasticity at 2 weeks of age and can reach adult age. This makes the spastic mouse model suitable for investigation novel interventions to improve physical performance.
Sylics has recently performed a detailed quantitative behavioral analysis of the spastic mouse model (Rivares et al, 2020). Spastic mice display a series of abnormalities, such, including abnormal gait, impaired hind limb motor function, reduced physical activity, and alterations in the morphology of relevant muscles.
Duchenne's muscular dystrophy
Duchenne muscular dystrophy (DMD) is a neuromuscular disorder characterized by progressive muscle weakening and wasting. The disease is caused by nonsense or frame-shift mutations in the DMD gene, which encodes the muscle-related dystrophin protein. The most commonly used DMD mouse model is the mdx mouse, which lack dystrophin due to a point mutation. Sylics and collaborators have shown that these mice show robust muscle function impairments at young age and display cognitive impairments under specific conditions (Remmelink et al 2016; Engelbeen et al 2021)
Charcot-Marie-Tooth Disease (PMP22)
Sylics offers unique services with mouse models of CMT1A, the most prevalent hereditary demyelinating neuropathy. This autosomal, dominantly inherited disease is caused by a duplication on chromosome 17p which includes the peripheral myelin protein 22 (PMP22) gene. Sylics offers the C3-PMP2 mouse model which is a spontaneous revertant of the original C22-PMP22 model after backcrossing into C57BL/6 mice. In comparison to the original C22-PMP22 model, our C3-PMP22 model shows a mild disease phenotype, better resembling the human CMT1A disease. Sylics has characterized this model intensively, and together with collaborators published some of the findings (Michailidou et al. 2023).
The systemic inhibition of the terminal complement system reduces neuroinflammation but does not improve motor function in mouse models of CMT1A with overexpressed PMP22. Iliana Michailidou, Jeroen Vreijling, Matthijs Rumpf, Maarten Loos, Bastijn Koopmans, Nina Vlek, Nina Straat, Cedrick Agaser, Thomas B. Kuipers, Hailiang Mei, Frank Baas, Kees Fluiter. doi.org/10.1016/j.crneur.2023.100077 Curr Res Neurobiol. 2023
Assessment of Behavioral Characteristics With Procedures of Minimal Human Interference in the mdx Mouse Model for Duchenne Muscular Dystrophy. Engelbeen S, Aartsma-Rus A, Koopmans B, Loos M, van Putten M. Front Behav Neurosci. 2021 Jan 20;14:629043. doi: 10.3389/fnbeh.2020.629043. PMID: 33551769; PMCID: PMC7855581. https://pubmed.ncbi.nlm.nih.gov/33551769/
Keywords: Duchenne, neuromuscular disorder, muscle disease
Cognitive flexibility deficits in a mouse model for the absence of full-length dystrophin. Remmelink E, Aartsma-Rus A, Smit AB, Verhage M, Loos M, van Putten M. Genes Brain Behav. 2016 Jul;15(6):558-67. doi: 10.1111/gbb.12301. PMID: 27220066. https://pubmed.ncbi.nlm.nih.gov/27220066/
Keywords: Dystrophin, Duchenne, neuromuscular disorder, muscle disease
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