Chaperone therapy for GM2 gangliosidosis: effects of pyrimethamine on β-hexosaminidase activity in Sandhoff fibroblasts

Mol Neurobiol. 2014 Aug;50(1):159-67. doi: 10.1007/s12035-013-8605-5. Epub 2013 Dec 20.

Abstract

Sphingolipidoses are inherited genetic diseases due to mutations in genes encoding proteins involved in the lysosomal catabolism of sphingolipids. Despite a low incidence of each individual disease, altogether, the number of patients involved is relatively high and resolutive approaches for treatment are still lacking. The chaperone therapy is one of the latest pharmacological approaches to these storage diseases. This therapy allows the mutated protein to escape its natural removal and to increase its quantity in lysosomes, thus partially restoring the metabolic functions. Sandhoff disease is an autosomal recessive inherited disorder resulting from β-hexosaminidase deficiency and characterized by large accumulation of GM2 ganglioside in brain. No enzymatic replacement therapy is currently available, and the use of inhibitors of glycosphingolipid biosynthesis for substrate reduction therapy, although very promising, is associated with serious side effects. The chaperone pyrimethamine has been proposed as a very promising drug in those cases characterized by a residual enzyme activity. In this review, we report the effect of pyrimethamine on the recovery of β-hexosaminidase activity in cultured fibroblasts from Sandhoff patients.

Publication types

  • Review

MeSH terms

  • Fibroblasts / drug effects*
  • Fibroblasts / enzymology
  • Hexosaminidase B / metabolism*
  • Humans
  • Molecular Chaperones / pharmacology*
  • Molecular Chaperones / therapeutic use
  • Pyrimethamine / pharmacology*
  • Pyrimethamine / therapeutic use
  • Sandhoff Disease / drug therapy*
  • Sandhoff Disease / enzymology

Substances

  • Molecular Chaperones
  • Hexosaminidase B
  • Pyrimethamine