부산대학교 도서관

The peroxisome is a sub cellular organelle that was first recognized in 1954. Its name derives from its role in the production and reduction of hydrogen peroxide. More than 40 biochemical reactions take place in this organelle, and 15 distinct genetically determined peroxisomal disorders have been identified. Twelve of them are associated with severe mental retardation. They are subdivided into two major categories: (1) the disorders of peroxisome assembly, exemplified by the Zellweger syndrome, in which the organelle fails to form normally and multiple peroxisomal functions are deficient, and (2) a group of disorders in which there is a defect that affects a single peroxisomal protein. Adrenoleukodystrophy is the most common of this second group. All the peroxisomal disorders can be identified by noninvasive tests and also prenatally. The causative mutations are being defined at a rapid pace. Current research efforts focus on the delineation of the mechanisms of the associated mental retardation and on the development and evaluation of new therapies, which include dietary and pharmacologic approaches as well as transplantation and gene therapy. [ABSTRACT FROM AUTHOR]