“Acetate supplementation could prove to be an effective therapy for Canavan disease, a rare congenital brain disease, say researchers studying deficiency of myelin-related fatty acids in sufferers.
There is currently no cure or standard treatment for Canavan disease, a disorder of the central nervous system which turns myelin, the brain’s white matter that protects nerves and allows messages to be sent to and from the brain, into a spongy tissue. The disease is always fatal.
For a study published in the Proceedings of the National Academy of Sciences, scientists at the Uniformed Services University of the Health Sciences in Bethesda, Maryland, set out to test the theory that acetate deficiency leads to decreased synthesis of myelin-related fatty acids and lipids, which in turn causes the disease.
Acetate is a hormone usually produced by N-acetylaspartic acid (NAA) in the brain. In Canavan disease sufferers, NAA levels build up due to mutations in the gene for the enzyme aspartoacylase, but the precise relationship between NAA accumulation and mycelin destruction is not known.
In a mouse model the researchers found that four or five major myelin lipids were missing from the brain during myelination, and acetate levels decreased by about 80 percent.
Likewise, analysis of lipid content of white matter from a human Canavan patient also showed decreases in a number of myelin lipids.
The researchers claim that their results are the first to show that myelin lipid synthesis is significantly compromised in Canavan disease, and that defective myelin synthesis results from a deficiency of NAA-derived acetate.
They say that there is a strong case for comprehensive clinical trials investigating acetate supplementation as a potential therapy for the disease.