Gene therapy for lysosomal storage disorders: a good start

Alessandra Biffi

Research output: Contribution to journalReview article

Abstract

Lysosomal storage disorders (LSDs) are a heterogeneous group of inherited diseases with a collective frequency of ∼1 in 7000 births, resulting from the deficiency in one or more enzymes or transporters that normally reside within the lysosomes. Pathology results from the progressive accumulation of uncleaved lipids, glycoproteins and/or glycosaminoglycans in the lysosomes and secondary damages that affect the brain, viscera, bones and connective tissues. Most treatment modalities developed for LSD, including gene therapy (GT), are based on the lysosome-specific cross-correction mechanism, by which close proximity of normal cells leads to the correction of the biochemical consequences of enzymatic deficiency within the neighboring cells. Here, GT efforts addressing these disorders are reviewed with an up-to-date discussion of their impact on the LSD disease phenotype in animal models and patients.
Original languageEnglish
Pages (from-to)R65 - R75
JournalHuman Molecular Genetics
Volume25
Issue numberR1
DOIs
Publication statusPublished - Apr 15 2016

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Lysosomes
Genetic Therapy
Lysosomal Storage Diseases
Viscera
Glycosaminoglycans
Connective Tissue
Glycoproteins
Animal Models
Parturition
Pathology
Phenotype
Lipids
Bone and Bones
Brain
Enzymes
Therapeutics

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Cite this

Gene therapy for lysosomal storage disorders: a good start. / Biffi, Alessandra.

In: Human Molecular Genetics, Vol. 25, No. R1, 15.04.2016, p. R65 - R75.

Research output: Contribution to journalReview article

Biffi, Alessandra. / Gene therapy for lysosomal storage disorders: a good start. In: Human Molecular Genetics. 2016 ; Vol. 25, No. R1. pp. R65 - R75.
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