Geneticists have found the cause of motor neuron disease

British scientists have discovered a mutation that is the cause of one of the forms of motor neuron disease (motor neurone disease, MND). The discovery allows for a better understanding of the mechanisms involved in the development of this severe neurological disease, and may lead to the creation of new drugs.

Motor neuron disease is a progressive degenerative disease of the brain and spinal cord that causes irreversible atrophy and muscle cramps, as well as swallowing and articulation disorders with preserved intelligence. The famous theoretical physicist Stephen Hawking suffers from this disease. Every year, about 120 thousand new cases of the disease are diagnosed in the world.

Scientists from King's College London examined a family, several members of which suffered from motor neuron disease. They found that the cause of the disease was a mutation of the gene encoding the protein TDP-43.

The hereditary form of the disease associated with this mutation is rare – in 1% of cases, however, excessive accumulation of TDP-43 protein is detected in most patients with motor neuron disease.

Previously, it was believed that this protein is a harmless by-product that accumulates in this disease. In experiments on chicken embryos, study leader Chris Shaw and his colleagues proved that TDP-43 has a direct toxic effect on the motor neurons of the spinal cord.

According to the researchers, their discovery can be used in the creation of animal models to study motor neuron disease. In addition, the new data may help in the development of methods to combat the disease, which is currently considered incurable, the journal Science reports.

Source: Study sheds light on paralyzing nerve condition – Scientific American, 02/28/2008

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