From rare to common and back again: 60 years of lysosomal dysfunction

Coutinho, Maria Francisca; Alves, Sandra

http://hdl.handle.net/10400.18/3555

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Authors

Coutinho, Maria Francisca

Alves, Sandra

Abstract(s)

Sixty years after its discovery, the lysosome is no longer considered as cell's waste bin but as an organelle playing a central role in cell metabolism. Besides its well known association with lysosomal storage disorders (mostly rare and life-threatening diseases), recent data have shown that the lysosome is also a player in some of the most common conditions of our time; and, perhaps even most important, it is not only a target for orphan drugs (rare disease therapeutic approaches) but also a putative target to treat patients suffering from common complex diseases worldwide. Here we review the striking associations linking rare lysosomal storage disorders such as the well-known Gaucher disease, or even the recently discovered, extremely rare Neuronal Ceroid Lipofuscinosis-11 and some of the most frequent, multifaceted and complex disorders of modern society such as cancer, Parkinson's disease and frontotemporal lobar degeneration.

Keywords

Cancer Frontotemporal Lobar Degeneration (FTLD) Gaucher Disease (GD) Lysosomal Storage Disorders (LSDs) Neuronal Ceroid Lipofuscinosis (NCL) Doenças Genéticas