Clarifying lysosomal storage diseases.

Abstract

Lysosomal storage diseases (LSDs) are a class of metabolic disorders caused by mutations in proteins critical for lysosomal function. Such proteins include lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins. There are many recognized forms of LSDs and, although individually rare, their combined prevalence is estimated to be 1 in 8000 births. Over two-thirds of LSDs involve central nervous system (CNS) dysfunction (progressive cognitive and motor decline) and these symptoms are often the most debilitating. Although the genetic basis for these disorders is clear and the biochemistry of the proteins well understood, the cellular mechanisms by which deficiencies in these proteins disrupt neuronal viability remain ambiguous. In this review, we provide an overview of the widespread cellular perturbations occurring in LSDs, how they might be linked and interventions that may specifically or globally correct those defects.

• Authors: Mark L Schultz, Luis Tecedor, Michael Chang, Beverly L Davidson
• Journal: Trends in neurosciences (Trends Neurosci) Vol. 34 Issue 8 Pg. 401-10 (Aug 2011) ISSN: 1878-108X [Electronic] England
• PMID: 21723623 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Review)
• Copyright: Copyright © 2011 Elsevier Ltd. All rights reserved.

Chemical References

• Proteins
• lysosomal proteins

Topics

• Animals
• Exocytosis
• Humans
• Lysosomal Storage Diseases (genetics, physiopathology, therapy)
• Lysosomes (metabolism)
• Protein Transport
• Proteins (metabolism)