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Author
Fontrodona Duran, Claudia
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Abstract
Lysosomes are cellular organelles that are present in the cytoplasm of mammalian cells. They are organelles that contain a set of hydrolytic enzymes that allow the degradation into simpler and smaller molecules of biomaterials and macromolecules that cells internalize via endocytosis, phagocytosis and autophagy.
The main function they perform is essential for proper cell function, as the deficient activity of some of the enzymes, membrane proteins or enzyme receptors caused by mutations in the genes that encode the synthesis of these structures, produces the accumulation of exogenous undegraded substrates. This accumulation of biomolecules in lysosomes leads to the appearance of Lysosomal Storage Diseases (LSDs).
The symptomatology of LSD is highly diverse, from involvement of the musculoskeletal system, lungs, heart, liver, spleen, eyes to involvement of the Central Nervous System (CNS), which usually results in death in the early years of patient’s life.
This paper describes the different therapies approved by the European Medicines Agency (EMA) and the Food and Drug Administration (FDA) to treat Lysosomal Storage Diseases. In more detail, the basis of Enzyme Replacement Therapies (ERT) and LSDs that have established these therapies as the treatment of choice are discussed, as well as the production system of each of them. Finally, the emerging therapeutic options of potential therapeutic application in the future are considered.
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