Dear Colleagues,

Lysosomal Storage Disorders (LSDs) are a heterogeneous group of rare genetic conditions that arise due to a deficiency of lysosomal enzymes or an essential cofactor, leading to substrate deposition within the lysosomes. Lysosomal abnormalities lead to changes in autophagy, energy balance, and mitochondrial function. LSD is subclassified according to the type of stored materials originating from sphingolipids, glycosaminoglycans, lipofuscin metabolism, integral membrane proteins, or post-translational modifications. The trapping of sphingolipid metabolites inhibits lipid recycling and directly affects the lipid composition of cellular or inner mitochondrial membranes.

Although the clinical features of LSDs vary from disease to disease, neurological complications are common and most patients have a decreased lifespan and significant morbidity. Enzyme replacement therapy is available for several LSDs. However, while enzyme replacement therapy helps to slow disease progression and improve clinical symptoms, it does not affect neurologic features due to its inability to cross the blood-brain barrier. Advanced therapies for LSDs include stem cell transplants, gene therapy, small molecule/nanomedicine approaches, and genome editing.

This research topic is focused on gaining a better understanding of the pathogenesis of LSDs. Publications describing new biomarkers and novel therapies for LSDs are welcome.

We welcome the submission of original research articles, and reviews. We also encourage undergraduate students, graduate students, and postdoctoral trainees to write and submit reviews on this topic.

Dr. Margarita M Ivanova

Guest Editor