2Laboratory of Metabolism, Tufts Medical Center, 800 Washington Street, Boston, MA 02111, USA; E-mail: CGarganta@tuftsmedicalcenter.org
3Boston College, Department of Biology, 140 Commonwealth Avenue, Chestnut Hill, MA 02467, USA; fax: 617-552-2011; E-mail: email@example.com
* To whom correspondence should be addressed.
Received March 20, 2014
More than 50 hereditary lysosomal storage disorders (LSDs) are currently described. Most of these disorders are due to a deficiency of certain hydrolases/glycosidases and subsequent accumulation of nonhydrolyzable carbohydrate-containing compounds in lysosomes. Such accumulation causing hypertrophy of the lysosomal compartment is a characteristic feature of affected cells in LSDs. The investigation of biochemical and cellular parameters is of particular interest for understanding “life” of lysosomes in the normal state and in LSDs. This review highlights the wide spectrum of biochemical and morphological changes during developing LSDs that are extremely critical for many metabolic processes inside the various cells and tissues of affected persons. The data presented will help establish new complex strategies for metabolic correction of LSDs.
KEY WORDS: lysosomes, lysosomal storage diseases, autophagy, pathogenic cascades, recycling, deficiency of lysosomal enzymes and protein cofactors, metabolic correction