Human INCL fibroblasts display abnormal mitochondrial and lysosomal networks and heightened susceptibility to ROS-induced cell death

PLoS One. 2021 Feb 9;16(2):e0239689. doi: 10.1371/journal.pone.0239689. eCollection 2021.

Abstract

Infantile Neuronal Ceroid Lipofuscinosis (INCL) is a pediatric neurodegenerative disorder characterized by progressive retinal and central nervous system deterioration during infancy. This lysosomal storage disorder results from a deficiency in the Palmitoyl Protein Thioesterase 1 (PPT1) enzyme-a lysosomal hydrolase which cleaves fatty acid chains such as palmitate from lipid-modified proteins. In the absence of PPT1 activity, these proteins fail to be degraded, leading to the accumulation of autofluorescence storage material in the lysosome. The underlying molecular mechanisms leading to INCL pathology remain poorly understood. A role for oxidative stress has been postulated, yet little evidence has been reported to support this possibility. Here we present a comprehensive cellular characterization of human PPT1-deficient fibroblast cells harboring Met1Ile and Tyr247His compound heterozygous mutations. We detected autofluorescence storage material and observed distinct organellar abnormalities of the lysosomal and mitochondrial structures, which supported previous postulations about the role of ER, mitochondria and oxidative stress in INCL. An increase in the number of lysosomal structures was found in INCL patient fibroblasts, which suggested an upregulation of lysosomal biogenesis, and an association with endoplasmic reticulum stress response. The mitochondrial network also displayed abnormal spherical punctate morphology instead of normal elongated tubules with extensive branching, supporting the involvement of mitochondrial and oxidative stress in INCL cell death. Autofluorescence accumulation and lysosomal pathologies can be mitigated in the presence of conditioned wild type media suggesting that a partial restoration via passive introduction of the enzyme into the cellular environment may be possible. We also demonstrated, for the first time, that human INCL fibroblasts have a heightened susceptibility to exogenous reactive oxygen species (ROS)-induced cell death, which suggested an elevated basal level of endogenous ROS in the mutant cell. Collectively, these findings support the role of intracellular organellar networks in INCL pathology, possibly due to oxidative stress.

MeSH terms

  • Apoptosis / genetics
  • Cell Death / genetics
  • Cells, Cultured
  • Endoplasmic Reticulum / metabolism
  • Fibroblasts / metabolism
  • Humans
  • Lysosomal Storage Diseases / metabolism
  • Lysosomal Storage Diseases / physiopathology
  • Lysosomes / metabolism
  • Membrane Proteins / genetics
  • Membrane Proteins / metabolism*
  • Mitochondria / metabolism
  • Neurodegenerative Diseases / metabolism
  • Neurodegenerative Diseases / physiopathology
  • Neuronal Ceroid-Lipofuscinoses / metabolism*
  • Neuronal Ceroid-Lipofuscinoses / physiopathology
  • Oxidative Stress
  • Reactive Oxygen Species / metabolism
  • Thiolester Hydrolases / genetics
  • Thiolester Hydrolases / metabolism*

Substances

  • Membrane Proteins
  • Reactive Oxygen Species
  • Thiolester Hydrolases
  • PPT1 protein, human
  • palmitoyl-protein thioesterase

Grants and funding

The authors received no specific funding for this work.