Relationship of Lysosomal Storage Diseases (LSD) with Autophagy

Abstract

Lysosomes are organelles that degrade damaged components or structures that have completed their functions and have roles in the last step of the autophagy pathway. Damage of the autophagy-lysosome pathway can cause vital problems for the cell. Lysosomal storage diseases (LSD) are one of the most common human genetic disorder caused by gene mutations. Up to now, more than 70 LSD were identified. LSD is mainly caused by functional disorders of enzymes in lysosomes or proteins associated with lysosomes. These disorders lead to the accumulation of undigested macromolecules in cells LSD can cause many systemic damages mainly in the nervous system, skeletal system, and reticuloendothelial system especially at early stages of the disease. Modulation and reactivation of autophagy is accepted as a new therapeutic approach for LSD. In this review, the general mechanisms of the relationship between lysosomal storage diseases and autophagy were evaluated together with the treatment approaches.

Keywords

• autophagy
• lysosomal storage disease
• endosome
• protein function loss