Long-term reestablishment of alpha-L-iduronidase activity in MPS I fibroblasts after non-viral gene transfer

Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder due to deficiency of alpha-L-iduronidase (IDUA). Limitations such as need of weekly injection, high morbidity and mortality  and high cost of the current treatments show the need for new approaches to treat this disease. In this wo...

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Published inClinical and Biomedical Research Vol. 37; no. 4
Main Authors Fabiano de Oliveira Poswar, Fabiana Quoos Mayer, Maira Graeff Burin, Ursula da Silveira Matte, Roberto Giugliani, Guilherme Baldo
Format Journal Article
LanguageEnglish
Published Hospital de Clinicas de Porto Alegre ; Universidade Federal do Rio Grande do Sul (UFRGS) 01.12.2017
Subjects
genetic therapy
iduronidase
Mucopolysaccharidosis I
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Summary:Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder due to deficiency of alpha-L-iduronidase (IDUA). Limitations such as need of weekly injection, high morbidity and mortality  and high cost of the current treatments show the need for new approaches to treat this disease. In this work we aimed to correct fibroblasts from a MPS I patient using non-viral gene therapy. Using a plasmid encoding the human IDUA cDNA, we achieved stable high IDUA levels in transfected fibroblasts up to 6 months of treatment. These results serve as proof-of concept that a non-viral approach can correct the enzyme deficiency in cells from lysosomal storage disorders patients, which can be used as a tool for research a series of disease aspects. Future studies will focus on verify if this approach can be useful in small animals and clinical trials.
ISSN:0101-5575
2357-9730