Current therapies for the soluble lysosomal forms of neuronal ceroid lipofuscinosis

Andrew M.S. Wong, Ahad A. Rahim, Simon N. Waddington, Jonathan D. Cooper

Research output: Contribution to journalArticle

28 Scopus citations

Abstract

The NCLs (neuronal ceroid lipofuscinoses) are the most common inherited paediatric neurodegenerative disorder. Although genetically distinct, NCLs can be broadly divided into two categories: one in which the mutation results in a defect in a transmembrane protein, and the other where the defect lies in a soluble lysosomal enzyme. A number of therapeutic approaches are applicable to the soluble lysosomal forms of NCL based on the phenomenon of cross-correction, whereby the ubiquitously expressed mannose 6-phosphate/IGF (insulin-like growth factor) II receptor provides an avenue for endocytosis, trafficking and lysosomal processing of extracellularly delivered enzyme. The present review discusses therapeutic utilization of cross-correction by enzyme-replacement therapy, gene therapy and stem cell therapy for the NCLs, along with an overview of the recent progress in translating these treatments into the clinic.

Original languageEnglish
Pages (from-to)1484-1488
Number of pages5
JournalBiochemical Society transactions
Volume38
Issue number6
DOIs
StatePublished - Dec 1 2010
Externally publishedYes

Keywords

  • Batten disease
  • Chaperone therapy
  • Enzyme-replacement therapy
  • Gene therapy
  • Neuronal ceroid lipofuscinosis
  • Stem cell therapy

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