Journal
EMBO MOLECULAR MEDICINE
Volume 13, Issue 2, Pages -Publisher
WILEY
DOI: 10.15252/emmm.202012836
Keywords
autophagy; lysosomal biology; lysosomal storage diseases; lysosomes
Categories
Funding
- Italian Telethon Foundation [TGM16CB6]
- MIUR FIRB [RBAP11Z3YA]
- European Research Council [694282]
- U.S. National Institutes of Health [R01-NS078072]
- Huffington Foundation
- Associazione Italiana per la Ricerca sul Cancro (A.I.R.C.)
- European Regional Development Fund-POR Campania FESR 2014/2020 [IG 2015 Id17639, MCO 10000, IG 18988]
- Italian Ministry of Health [RF-2016-02361540]
- European Research Council (ERC) [694282] Funding Source: European Research Council (ERC)
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Lysosomal storage diseases are metabolic disorders caused by deficiencies in lysosomal function components. Understanding of lysosomal biology has evolved from organelles involved in catabolic pathways to dynamic elements involved in multiple cellular functions and capable of adapting to environmental stimuli. Novel technologies based on high-throughput approaches have greatly contributed to the characterization of lysosomal biology and dysfunction.
Lysosomal storage diseases are a group of metabolic disorders caused by deficiencies of several components of lysosomal function. Most commonly affected are lysosomal hydrolases, which are involved in the breakdown and recycling of a variety of complex molecules and cellular structures. The understanding of lysosomal biology has progressively improved over time. Lysosomes are no longer viewed as organelles exclusively involved in catabolic pathways, but rather as highly dynamic elements of the autophagic-lysosomal pathway, involved in multiple cellular functions, including signaling, and able to adapt to environmental stimuli. This refined vision of lysosomes has substantially impacted on our understanding of the pathophysiology of lysosomal disorders. It is now clear that substrate accumulation triggers complex pathogenetic cascades that are responsible for disease pathology, such as aberrant vesicle trafficking, impairment of autophagy, dysregulation of signaling pathways, abnormalities of calcium homeostasis, and mitochondrial dysfunction. Novel technologies, in most cases based on high-throughput approaches, have significantly contributed to the characterization of lysosomal biology or lysosomal dysfunction and have the potential to facilitate diagnostic processes, and to enable the identification of new therapeutic targets.
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