The new frame for Mucopolysaccharidoses.
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ABSTRACT:
SUBMITTER: Parini R
PROVIDER: S-EPMC6238248 | biostudies-literature | 2018 Nov
REPOSITORIES: biostudies-literature
Publications
The new frame for Mucopolysaccharidoses.
Parini Rossella R Biondi Andrea A
Italian journal of pediatrics 20181116 Suppl 2
Mucopolysaccharidoses (MPS) are genetic, progressive, lysosomal storage disorders affecting virtually all organs and systems. The first MPS were clinically identified about 100 years ago. Nowadays, the enzyme defects and related genes are known for all 11 different enzyme defects. Treatments are available for many MPS but these have only partial efficacy, especially when started late. The problems to solve are: 1) the need for an earlier diagnosis (neonatal screening? improving the awareness of ...[more]
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Project description:Enzyme replacement therapy is currently considered the standard of care for the treatment of mucopolysaccharidoses (MPS) type I, II, VI, and IV. This approach has shown substantial efficacy mainly on somatic symptoms of the patients, but no benefit was found for other clinical manifestations, such as neurological involvement. New strategies are currently being tested to address these limitations, in particular to obtain sufficient therapeutic levels in the brain. Intrathecal delivery of recombinant enzymes or chimeric enzymes represent promising approaches in this respect. Further innovation will likely be introduced by the recent advancements in the knowledge of lysosomal biology and function. It is now clear that the clinical manifestations of MPS are not only the direct effects of storage, but also derive from a cascade of secondary events that lead to dysfunction of several cellular processes and pathways. Some of these pathways may represent novel therapeutic targets and allow for development of novel or adjunctive therapies for these disorders.
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