Involvement of the mitochondrial compartment in human NCL fibroblasts

Francesco Pezzini, Floriana Gismondi, Alessandra Tessa, Paola Tonin, Rosalba Carrozzo, Sara E. Mole, Filippo M. Santorelli, Alessandro Simonati

Research output: Contribution to journalArticlepeer-review


Neuronal ceroid lipofuscinosis (NCL) are a group of progressive neurodegenerative disorders of childhood, characterized by the endo-lysosomal storage of autofluorescent material. Impaired mitochondrial function is often associated with neurodegeneration, possibly related to the apoptotic cascade. In this study we investigated the possible effects of lysosomal accumulation on the mitochondrial compartment in the fibroblasts of two NCL forms, CLN1 and CLN6. Fragmented mitochondrial reticulum was observed in all cells by using the intravital fluorescent marker Mitotracker, mainly in the perinuclear region. This was also associated with intense signal from the lysosomal markers Lysotracker and LAMP2. Likewise, mitochondria appeared to be reduced in number and shifted to the cell periphery by electron microscopy; moreover the mitochondrial markers VDCA and COX IV were reduced following quantitative Western blot analysis. Whilst there was no evidence of increased cell death under basal condition, we observed a significant increase in apoptotic nuclei following Staurosporine treatment in CLN1 cells only. In conclusion, the mitochondrial compartment is affected in NCL fibroblasts in vitro, and CLN1 cells seem to be more vulnerable to the negative effects of stressed mitochondrial membrane than CLN6 cells.

Original languageEnglish
Pages (from-to)159-164
Number of pages6
JournalBiochemical and Biophysical Research Communications
Issue number1-2
Publication statusPublished - Dec 9 2011


  • Apoptosis
  • CLN1
  • CLN6
  • Mitochondrial reticulum
  • Staurosporine

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Cell Biology
  • Molecular Biology


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