Metabolic mystery solved, lending insight into Lafora disease

26 enero 2015

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.