Metabolic mystery solved, lending insight into Lafora disease
Monday, January 26, 2015 - 14:30
in Biology & Nature
The metabolic function of the essential enzyme laforin has been identified by researchers, which opens new pathways to treating the deadly Lafora's disease. Lafora disease occurs as a result of the laforin gene being mutated. Mutations in the gene encoding the laforin protein result in the accumulation aberrant glycogen-like accumulations called Lafora bodies that resemble plant starch more than human glycogen.