The mucopolysaccharidoses: pathogenesis, animal models and current therapies

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Colle, Marie-Anne

Edité par CCSD -

National audience. Mucopolysaccharidoses (MPS) are a group of metabolic disorders caused by the deficiency of lysosomal enzymes leading to abnormal glycosaminoglycan catabolism. They are part of lysosomal storage diseases, a group a of more 40 genetics disorders characterized by lysosomal dysfunction. Seven distinct MPS clinical types and numerous subtypes have been identified resulting from deficit of one of the 11 enzymes required to break down sugar chains into simpler molecules. Patients with MPS have a greatly diminished lifespan and reduced quality of life, particularly those with neurological manifestations. There are few therapeutic options available to treat MPS including neurological symptoms. In a first part, the author deals with the MPS pathogenesis and animal models are debated. After a brief review summarizing the current therapies in patients and for which the treatment of neurological signs remains the main challenge, the author reports the long-term follow-up successful treatment of MPS type I and type IIIB in dog models using intracerebral gene therapy, indicating that a similar approach can be considered in combination with ERT for the treatment of affected children.

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