Lafora Disease - Causes

Causes

Lafora disease is an autosomal recessive disorder, caused by mutations in one of two known genes, EPM2A and EPM2B. EPM2A codes for the protein laforin, a dual specificity phosphatase (DSP) with a carbohydrate binding domain (CBM-20). Surprisingly, vertebrates have only one such protein with DSP domain as well as CBM-20 domain. EPM2B encodes the protein malin, an E3 ubiquitin ligase. At least one other gene is thought to contribute to the disease. Both discovered genes are present on chromosome 6 in humans.