Motor Neuron Diseases
Motor neuron diseases (MND) encompass a cluster of progressive neurological disorders marked by the gradual deterioration of motor neurons, resulting in muscle weakness, wastage, and ultimately, paralysis. Our company stands as a prominent authority in the advancement of pharmaceuticals and therapies for rare diseases, inclusive of motor neuron diseases.
Introduction to Motor Neuron Diseases
Motor neuron diseases (MND), also referred to as motor neurone diseases or motor system diseases, encompass a spectrum of disorders that impact both the upper and lower motor neurons. These crucial neurons play a vital role in transmitting signals from the brain to the spinal cord and then to the muscles. The simultaneous involvement of both types of motor neurons leads to a diverse range of symptoms, including muscle weakness, spasticity, and difficulties in functions such as speech, swallowing, and breathing.
Pathogenesis of Motor Neuron Diseases
The precise cause of motor neuron diseases remains elusive, yet research has shed light on several factors that contribute to the pathogenesis of the disease. In familial cases of ALS, genetic mutations have been identified as a significant factor, with mutations in genes like TARDBP, SOD1, FUS, and C9orf72 being commonly associated. However, the majority of cases are sporadic, lacking an apparent genetic cause.
Pathologically, motor neuron diseases are characterized by the presence of protein aggregates, particularly TDP-43, within motor neurons. These aggregates disrupt normal cellular processes, leading to neuronal dysfunction and degeneration. Additionally, impaired protein homeostasis, RNA metabolism, mitochondrial dysfunction, and oxidative stress are among the mechanisms that play a role in the development and progression of the disease.
Fig.1 Contribution of the CM system to human movements. (Eisen, Andrew, et al., 2023)Therapy Development of Motor Neuron Diseases
Develop small molecule drugs that target specific molecular pathways related to motor neuron diseases, aiming to regulate disease progression, improve motor neuron survival, and improve symptoms.
Research focuses on using stem cells, such as induced pluripotent stem cells (iPSCs), to replace damaged motor neurons and restore motor function.
Innovative gene-based approaches have the potential to address the genetic causes of motor neuron disease, such as adeno-associated virus (AAV) vectors to deliver therapeutic genes to motor neurons.
Our Services
In our pursuit of developing effective therapies for motor neuron diseases, we target multiple aspects of the disease pathology. Our research focuses on the following key targets: protein homeostasis, mitochondrial function, RNA metabolism, oxidative stress, and neuroinflammation. Our diagnostics and therapeutics development platforms can meet your diverse needs in motor neuron disease research.
Rare Types of Motor Neuron Diseases
| A-F | |
| Achondroplasia (ACH) | Centronuclear Myopathy (CNM) |
| Charcot-Marie-Tooth Disease (CMT) | Dermatomyositis (DM) |
| Duchenne Muscular Dystrophy (DMD) | Dystonia |
| Ehlers-Danlos Syndrome (EDS) | Facioscapulohumeral Muscular Dystrophy (FSHD ) |
| Fibrodysplasia Ossificans Progressiva (FOP) | Fibrous Dysplasia (FD) |
| H-O | |
| Hutchinson-Gilford Progeria Syndrome (HGPS) | Hypophosphatasia (HPP) |
| Limb-Girdle Muscular Dystrophy (LGMD) | Metaphyseal Chondrodysplasia, Schmid Type (MCDS) |
| Myasthenia Gravis (MG) | Osseous Heteroplasia, Progressive (POH) |
| Osteogenesis Imperfecta (OI) | Osteogenesis Imperfecta (OI) |
| P-V | |
| Paget's Disease of Bone (PDB) | Pigmented Villonodular Synovitis (PVS) |
| Pigmented Villonodular Synovitis (TGCT) | Spinal Muscular Atrophy (SMA) |
| Spondyloepiphyseal Dysplasia Congenita (SEDC) | Sarcoglycanopathy |
| Tay-Sachs Disease (TSD) | Tenosynovial Giant Cell Tumor (TGCT) |
| Unverricht-Lundborg Syndrome (PME) | Von Recklinghausen Disease (VRD) |
Therapy Development Platforms
Through our comprehensive services, including preclinical research, drug development, animal model development, drug safety evaluation, and pharmacokinetic analysis, we strive to bring more possibilities to the successful development of therapies for motor neuron disease. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
- Eisen, Andrew, Steve Vucic, and Hiroshi Mitsumoto. "History of ALS and the competing theories on pathogenesis." Clinical Neurophysiology Practice (2023).
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.