Compositions and methods for detecting and treating motor neuron disorders

Patent Number: 7,384,748

The issued claim in the current patent covers a method of diagnosing a motor neuron disease based on sequences associated with mutations in the neuropathy target esterase (NTE) gene. If one reads the specification, descriptions of treatments based on inhibiting expression of the mutated NTE gene using techniques such as siRNA are disclosed. Genetic complementation using stem cells are also mentioned.

What is NTE? It is a membrane protein found in all neurons, which is believed to be associated with inter-neuron and neuron-glia communications. Inhibition of NTE is associated with paralysis. In the 1930s a poisoning epidemic associated with pesticide organophosphates stimulated research, which in animal models, revealed inhibition of NTE is associated with paralysis. A more recent finding reported that inhibition of NTE in mice results in reduced degradation of lysolecitin, a compound known to stimulate demyelination (Quistad et al. Evidence that mouse brain neuropathy target esterase is a lysophospholipase, PNAS 100:7983, 2003).

Examples in the patent include genetic information and linkage studies between various NTE mutations and motor degenerative diseases. Stem cell therapy in some animal models has been demonstrated to have remyelinating effects. Patents exist for generating oligodendrocytes from embryonic stem cells as a means of remyelination, as well as for the use of multipotent neural stem cell progeny for this purpose.

This patent could be used to diagnose patients before clinical onset so that stem cell therapies, or other therapeutic interventions may be given proactively.

View this patent on the USPTO website.