SORD neuropathy is a type of peripheral neuropathy (a condition that affects nerves outside of the brain and spinal cord, called peripheral nerves) in which the gene called SORD is changed. People living with SORD neuropathy experience progressive muscle weakness, loss of sensations in the body and difficulty walking.
The SORD gene produces a protein called sorbitol dehydrogenase, which has an essential role in removing sorbitol (a sweet alcohol molecule that is often found in fruit) from cells. Sorbitol is toxic to cells such as motor neurons, but the reason for this toxicity is unknown. If SORD doesn’t work properly, people develop peripheral neuropathy and have high levels of sorbitol in their blood.
The researchers led by Dr James Sleigh have recently created a mouse y that doesn’t have the SORD gene. This mouse can be used as a ‘model’ for SORD neuropathy – sorbitol accumulates in motor neurons of these mice, which results in muscle weakness, just like in people living with SORD neuropathy. The mice will be used to identify the most important features of this condition. The team will also develop and test a gene therapy that will prevent the build-up of sorbitol in motor neurons, treating SORD neuropathy.