Treatment effect of coenzyme Q(10) and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease

J Inherit Metab Dis. 2014 May;37(3):439-46. doi: 10.1007/s10545-013-9668-1. Epub 2013 Dec 18.

Abstract

Coenzyme Q10 (CoQ10) plays a key role in the exchange of electrons in lysosomal membrane, which contributes to protons' translocation into the lumen and to the acidification of intra-lysosomal medium, which is essential for the proteolytic function of hydrolases responsible -when deficient- of a wide range of inherited lysosomal diseases such as Sanfilippo syndromes. Our aim was to evaluate whether treatment with CoQ10 or with an antioxidant cocktail (α-tocopherol, N-acetylcysteine and α-lipoic acid) were able to ameliorate the biochemical phenotype in cultured fibroblasts of Sanfilippo patients. Basal CoQ10 was analyzed in fibroblasts and Sanfilippo A patients showed decreased basal levels. However, no dysfunction in the CoQ10 biosynthesis pathways was found, revealing for the first time a secondary CoQ10 deficiency in Sanfilippo A fibroblasts. Cultured fibroblasts from five patients affected by Sanfilippo A and B diseases were treated with CoQ10 and an antioxidant cocktail. Upon CoQ10 treatment, none of the Sanfilippo A fibroblasts increased their residual enzymatic activity, but the two Sanfilippo B cell lines showed a statistically significant increase of their residual activity. The antioxidant treatment had no effect on the residual activity in all tested cell lines. Moreover, one Sanfilippo A and two Sanfilippo B fibroblasts showed a statistically significant reduction of glycosaminoglycans accumulation both, after 50 μmol/L CoQ10 and antioxidant treatment. Fibroblasts responsive to treatment enhanced their exocytosis levels. Our results are encouraging as some cellular alterations observed in Sanfilippo syndrome can be partially restored by CoQ10 or other antioxidant treatment in some patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antioxidants / therapeutic use*
  • Cell Survival / drug effects
  • Cells, Cultured
  • Exocytosis
  • Fibroblasts / drug effects*
  • Glycosaminoglycans / metabolism
  • Humans
  • Lysosomes / metabolism
  • Mucopolysaccharidosis III / drug therapy*
  • Mucopolysaccharidosis III / metabolism
  • Mucopolysaccharidosis III / pathology
  • Ubiquinone / analogs & derivatives*
  • Ubiquinone / therapeutic use

Substances

  • Antioxidants
  • Glycosaminoglycans
  • Ubiquinone
  • coenzyme Q10