Title:Lysosomal Acid Phosphatase Biosynthesis and Dysfunction: A Mini Review Focused on Lysosomal Enzyme Dysfunction in Brain
Volume: 16
Issue: 5
Author(s): N. Ashtari, X. Jiao, M. Rahimi-Balaei, S. Amiri, S. E. Mehr, B. Yeganeh and H. Marzban
Affiliation:
Keywords:
Acp2, Acp5, neurons, neurodegeneration, nax mutant, lysosomal dysfunction.
Abstract: Lysosomes are membrane-bound organelles that are responsible for degrading and recycling
macromolecules. Lysosomal dysfunction occurs in enzymatic and non-enzymatic deficiencies, which result in
abnormal accumulation of materials. Although lysosomal storage disorders affect different organs, the central
nervous system is the most vulnerable. Evidence shows the role of lysosomal dysfunction in different
neurodegenerative diseases, such as Niemann–Pick Type C disease, juvenile neuronal ceroid lipofuscinosis,
Alzheimer’s disease and Parkinson’s disease. Lysosomal enzymes such as lysosomal acid phosphatase 2
(Acp2) play a critical role in mannose-6-phosphate removal and Acp2 controls molecular and cellular functions
in the brain during development and adulthood. Acp2 is essential in cerebellar development, and mutations in
this gene cause severe cerebellar neurodevelopmental and neurodegenerative disorders. In this mini-review,
we highlight lysosomal dysfunctions in the pathogenesis of neurodevelopmental and/or neurodegenerative
diseases with special attention to Acp2 dysfunction.
