Gaucher disease – more than just a rare lipid storage disease

Jaehyeok Roh, Subbaya Subramanian, Neal J. Weinreb, Reena V. Kartha

Research output: Contribution to journalReview articlepeer-review

12 Scopus citations


Gaucher disease (GD), one of the most common lysosomal storage diseases, is caused by mutations in the gene, GBA1, that leads to defective glucocerebrosidase activity resulting in the accumulation and storage of glycosphingolipids. However, the pathophysiology of GD is more complicated leading to various associated conditions such as skeletal manifestations and Parkinson’s disease (PD). These may result from oxidative stress and inflammatory responses due to complex interconnection of downstream factors such as substrate accumulation, endoplasmic reticulum (ER) stress, unfolded protein response (UPR), calcium dysregulation, mitochondrial dysfunction, defective autophagy, accumulation of α-synuclein aggregates, altered secretion and function of extracellular vesicles (EVs), and immunologic hyperactivity. Here we provide an overview of lysosomal storage diseases followed by a comprehensive review of the factors contributing to oxidative stress and inflammation in GD pathophysiology, mechanisms underlying the possible associated complications, current established treatments for GD, their limitations, and potential primary and adjunctive treatment options targeting these factors.

Original languageEnglish (US)
Pages (from-to)499-518
Number of pages20
JournalJournal of Molecular Medicine
Issue number4
StatePublished - Apr 2022

Bibliographical note

Funding Information:
Authors would like to acknowledge the academic fellowship grant from Sanofi-Genzyme. We also thank Dr. Marcia Terluk for the careful review of the manuscript.

Publisher Copyright:
© 2021, The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.


  • Extracellular vesicles
  • Gaucher disease
  • Glycosphingolipids
  • Inflammation
  • Lysosomal storage disease
  • Oxidative stress

PubMed: MeSH publication types

  • Journal Article
  • Research Support, Non-U.S. Gov't
  • Review


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