Mutation of the Survival Motor Neuron1 (SMN1) gene causes spinal muscular atrophy (SMA), a progressive neurodegenerative disorder which is the leading cause of infant death in the U.S. Degeneration of spinal motor neurons caused by SMN deficiency results in muscle atrophy and death. The JNK3 pathway mediates neurodegeneration in SMA. JNK3-deficiency or treatment with JNK inhibitors reduces degeneration of neurons caused by low levels of SMN.
- Health Care
Features, Benefits & Advantages:
The brain specific isoform (JNK3) of c-Jun NH2-terminal kinase (JNK) has been found to mediate the degeneration of spinal motor neurons caused by SMN deficiency in spinal muscular atrophy (SMA). Moreover, JNK inhibitors reduce degeneration of neurons lacking SMN. The JNK signaling pathway can therefore mediate neurode-generation in SMA and represents a therapeutic target for treatment of SMA.
- JNK3-deficiency prevents neuron loss and reduces muscle degeneration
- JNK pathway represents a potential therapeutic target for treatment of SMA
The technology has been produced and tested. Preliminary experimental data have provided proof of concept.