IMR Press / FBL / Volume 22 / Issue 1 / DOI: 10.2741/4478

Frontiers in Bioscience-Landmark (FBL) is published by IMR Press from Volume 26 Issue 5 (2021). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on as a courtesy and upon agreement with Frontiers in Bioscience.

Open Access Article

Lysosomal alpha-mannosidase and alpha-mannosidosis

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1 Department of Pharmaceutical Sciences, University of Perugia, Via Fabretti, 06123 Perugia, Italy
2 Department of Experimental Medicine, Section of Anatomy, University of Perugia, Sant’Andrea delle Fratte, 06132 Perugia, Italy
3 Department of Chemistry, Biology and Biotechnology, Via Elce di sotto, 06123, Perugia, Italy
4 Laboratory of Nuclear Lipid BioPathology, CRABiON, Perugia 06122, Italy
Academic Editor:Munis Dundar
Front. Biosci. (Landmark Ed) 2017, 22(1), 157–167;
Published: 1 January 2017
(This article belongs to the Special Issue Genes and genetics)

Lysosomal alpha-mannosidase is ubiquitous in human tissues where is expressed in two major forms, A and B that are the product of a single gene located on chromosome 19. Mutations in the gene encoding for alpha-mannosidase cause alpha-mannosidosis, an autosomal recessive disease resulting in the accumulation of unprocessed mannose-containing oligosaccharide material. This rare disease has an estimated incidence of 1/500.000 live births and is clinically divided into three subgroups. Today the most promising therapy for this disease is the enzyme replacement therapy. To develop this strategy a mouse model for alpha-mannosidosis has been generated and a recombinant human alpha-mannosidase has been produced from Chinese Hamster Ovary cells. Interestingly, it has been shown that the recombinant enzyme, used in high dose, can cross the blood brain barrier. The recombinant enzyme has been tested in the first randomized study investigating the efficacy of the enzyme replacement therapy in patients with alpha-mannosidosis. This review contains the scientific progresses on lysosomal alpha-mannosidase from the cloning to the beginning of the therapy.

alpha-mannosidosis causing mutations
animals models
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