Lafora Disease - A Disease In Need Of A Cure
Lafora Disease or Lafora Body Disease is a form of progressive myoclonic epilepsy (PME). It has been named after the Spanish Pathologist, Gonzalo Rodriguez Lafora, the discoverer of the microscopic findings in this disease. It is a fatal condition with few surviving beyond the age of 25 years. It is inherited in an autosomal recessive pattern. The underlying pathology resulting in the clinical picture is that of neurological degeneration. However, the basic etiopathogenesis of this condition is a defect in the metabolism of Glycogen. Loss of Function(LOF) mutations in laforin glycogen phosphatase gene (EPM2A) or Malin E3 ubiquitin ligase gene (NHLRC1) are deemed responsible for the initiation of the deleterious effects. Laforin is a protein that cleaves off phosphate from glycogen thereby regulating the level of glycogen phosphorylation in cells. Malin in-turn controls the level of production of Laforin. The sequence of events can be summarized as follows: ...