According to Charcot-Marie-Tooth News, researchers have discovered a new subtype of Charcot-Marie-Tooth disease (CMT) linked to the sorbitol dehydrogenase (SORD) gene. Read the full study findings published in Nature Genetics.
In short, the SORD gene produces the SORD enzyme. This enzyme works to convert sorbitol, a slowly metabolized sugar alcohol, into fructose. This process is conducted via the polyol pathway, which has also been implicated in other conditions, such as diabetic peripheral neuropathy. Now, researchers are questioning whether certain treatments used for this diabetic condition could also be helpful for patients with CMT.
In the study, researchers explored SORD mutations in flies. When they removed the SORD gene, the flies experienced nerve damage which impacted their movement. However, administering epalrestat and ranirestat to the flies improved their symptoms and allowed them freer movement. Next, researchers hope to explore the same idea but using rat models.
Currently, researchers hypothesize that SORD mutated CMT is one of the most common subtypes of CMT, although this needs to be studied further. Geneticist and neurologist Dr. Stephan Zuchner explained that he is now offering free genetic testing to patients with CMT who are not sure what genetic mutation is causing their condition. If patients are interested in taking part in this testing, they should email firstname.lastname@example.org.
Interested in learning more about Charcot-Marie-Tooth disease and how you can advance its research? If you have been diagnosed with CMT, consider joining the Global Registry for Inherited Neuropathies.
Charcot-Marie-Tooth Disease (CMT)
Although it is considered a rare condition, Charcot-Marie-Tooth disease (CMT), or hereditary motor and sensory neuropathy, is also one of the most commonly inherited neurological disorders. There are a multitude of gene mutations which cause CMT, many of which are still being discovered. Thus, patients with CMT often have different subtypes based on their specific mutation. However, in each subtype, the genetic mutation causes peripheral nerves (those around the brain and spinal cord) to degenerate, preventing proper communication between nerves and muscles. In most cases, CMT-related symptoms appear in adolescence or early adulthood. It is also possible for symptoms to develop later in life. Symptoms include, but are not limited to:
- Leg and hand muscle atrophy
- Lower leg deformities
- Muscle weakness
- High arches, hammertoes, and other foot deformities
- Difficulty with walking or other fine motor skills
- Foot drop or frequent tripping