Motor neuron disorders include amyotrophic lateral sclerosis, autosomal recessive spastic paraplegia, hereditary spastic paraplegia, primary lateral sclerosis, progressive pseudobulbar palsy, progressive muscular atrophy, progressive bulbar palsy, and postpolio syndrome. Symptoms characteristic for a specific type of motor neuron disorder vary according to the part of the nervous system most affected. Median age of onset for developing a motor neuron disorder is 55 years, with a higher incidence in males. Motor neuron disorder diagnostic features include onset during middle or late adult life and progressive, generalized motor involvement without sensory abnormalities. While physical therapy may help maintain muscle function, there is no specific treatment for motor neuron disorders. Improved therapies aimed at decreasing motor neuron disorder symptoms as well as preventive strategies aimed at preventing the onset of motor neuron disorders are also needed. In addition, improved methods of identifying individuals at risk for developing motor neuron disorders are needed.
University of Michigan researchers have developed a method for diagnosing a motor neuron disease associated with mutations in Neuropathy Target Esterase (NTE) nucleic acid. NTE is involved in neuronal development and is the target for neurodegeneration induced by selected organophosphorus pesticides and chemical warfare agents. The present invention relates to the NTE proteins and nucleic acids encoding the NTE proteins, and provides assays for the detection of NTE polymorphisms and mutations associated with disease states, as well as methods of screening for therapeutic agents, ligands, and modulators of NTE proteins.
Applications and Advantages
- Detection of NTE polymorphisms and mutations-nl-associated with disease states
- Screening for therapeutic agents, ligands, and-nl-modulators of NTE proteins