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Current Molecular Medicine


ISSN (Print): 1566-5240
ISSN (Online): 1875-5666

Lysosomal Acid Phosphatase Biosynthesis and Dysfunction: A Mini Review Focused on Lysosomal Enzyme Dysfunction in Brain

Author(s): N. Ashtari, X. Jiao, M. Rahimi-Balaei, S. Amiri, S. E. Mehr, B. Yeganeh and H. Marzban

Volume 16, Issue 5, 2016

Page: [439 - 446] Pages: 8

DOI: 10.2174/1566524016666160429115834

Price: $65


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.

Keywords: Acp2, Acp5, neurons, neurodegeneration, nax mutant, lysosomal dysfunction.

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