EPILEPSY LINKED TO GANGLIOSIDES
Gangliosides are
glycolipids containing sialic acid and are found in almost all tissues, but are
especially abundant in the neurons, with a definite concentration spike in
central nervous system cell membranes.
Although many researches
have been conducted over the time -particularly about abnormalities in their
degradation, usually associated with lysosomal storage disorders- their role in
the brain has not been well characterized.
A mutation in a gene that
is normally involved in the production of gangliosides in the brain has been
linked to a rare form of familial epilepsy (Simpson M. A. et al.
Infantile-onset epilepsy-syndrome caused by a homozygous loss-of-function
mutation of GM3 synthase. Nature
Genetics 36, 1225-1229, 2004).
Gangliosides, according
to this research, might be important for regulating neuronal
(hyper)excitability.