MUTATIONS FOUND IN THE GENE ENCODING THE CYSTATIN B IN THE PROGRESSIVE MYOCLONUS EPILEPSY
It has been estimated that 3% of the world’s population suffer from epilepsy. This disorder is heterogeneous. The etiology of most epilepsies has remained unknown, however, it is thought that some types of epilepsies have a genetic basis. The team led by Myers et al, in the March 22, 96 issue of Science report that they have found mutations in the gene which encodes for a protein called cystatin B. The action of this protein is to block the activity of cathepsins which with their protease activity lead to the degradation of other proteins. The mutation was associated with decreased mRNA of cystatin B in the cells of affected individuals. Further studies are in progress to define as how the reduced cystatin B leads to epilepsy.
It has been estimated that 3% of the world’s population suffer from epilepsy. This disorder is heterogeneous. The etiology of most epilepsies has remained unknown, however, it is thought that some types of epilepsies have a genetic basis. The team led by Myers et al, in the March 22, 96 issue of Science report that they have found mutations in the gene which encodes for a protein called cystatin B. The action of this protein is to block the activity of cathepsins which with their protease activity lead to the degradation of other proteins. The mutation was associated with decreased mRNA of cystatin B in the cells of affected individuals. Further studies are in progress to define as how the reduced cystatin B leads to epilepsy. 
