Document details

The Biology of Lysosomes: From Order to Disorder

Author(s): Amaral, Olga ; Martins, Mariana ; Oliveira, Ana Rita ; Duarte, Ana Joana ; Mondragão-Rodrigues, Inês ; Macedo, M. Fatima

Date: 2023

Persistent ID: http://hdl.handle.net/10400.18/8656

Origin: Repositório Científico do Instituto Nacional de Saúde

Subject(s): Human Genetics; Lysosomal Disorder; Lysosome; Cell Biology; Lysosome Biogenesis and Function; Endocytic Pathway; Doenças Genéticas


Description

Since its discovery in 1955, the understanding of the lysosome has continuously increased. Once considered a mere waste removal system, the lysosome is now recognised as a highly crucial cellular component for signalling and energy metabolism. This notable evolution raises the need for a summarized review of the lysosome’s biology. As such, throughout this article, we will be compiling the current knowledge regarding the lysosome’s biogenesis and functions. The comprehension of this organelle’s inner mechanisms is crucial to perceive how its impairment can give rise to lysosomal disease (LD). In this review, we highlight some examples of LD fine-tuned mechanisms that are already established, as well as others, which are still under investigation. Even though the understanding of the lysosome and its pathologies has expanded through the years, some of its intrinsic molecular aspects remain unknown. In order to illustrate the complexity of the lysosomal diseases we provide a few examples that have challenged the established single gene—single genetic disorder model. As such, we believe there is a strong need for further investigation of the exact abnormalities in the pathological pathways in lysosomal disease.

Document Type Journal article
Language English
Contributor(s) Repositório Científico do Instituto Nacional de Saúde
CC Licence
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