Neural-specific deletion of mitochondrial p32/C1qbp leads to leukoencephalopathy due to undifferentiated oligodendrocyte and axon degeneration

Sci Rep. 2017 Nov 9;7(1):15131. doi: 10.1038/s41598-017-15414-5.

Abstract

Mitochondrial dysfunction is a critical step in the pathogenesis of many neurodegenerative diseases. The p32/ C1qbp gene functions as an essential RNA and protein chaperone in mitochondrial translation, and is indispensable for embryonic development. However, little is known about the consequences of mitochondrial dysfunction of p32 deletion in the brain development. Here, we found that mice lacking p32 in the central nervous system (p32cKO mice) showed white matter degeneration accompanied by progressive oligodendrocyte loss, axon degeneration and vacuolation in the mid brain and brain stem regions. Furthermore, p32cKO mice died within 8 weeks of birth. We also found that p32-deficient oligodendrocytes and neurons showed reduced oligodendrocyte differentiation and axon degeneration in primary culture. We show that mitochondrial disruption activates an adaptive program known as the integrated stress response (ISR). Mitochondrial respiratory chain function in oligodendrocytes and neurons is, therefore, essential for myelination and axon maintenance, respectively, suggesting that mitochondrial respiratory chain dysfunction in the central nervous system contributes to leukoencephalopathy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Axons / pathology
  • Brain Stem / pathology
  • Disease Models, Animal
  • Electron Transport
  • Gene Deletion*
  • Leukoencephalopathies / genetics
  • Leukoencephalopathies / pathology*
  • Leukoencephalopathies / physiopathology*
  • Mesencephalon / pathology
  • Mice
  • Mice, Knockout
  • Mitochondrial Proteins / deficiency*
  • Neurodegenerative Diseases / genetics
  • Neurodegenerative Diseases / pathology*
  • Neurodegenerative Diseases / physiopathology*
  • Oligodendroglia / pathology*
  • Survival Analysis

Substances

  • C1qbp protein, mouse
  • Mitochondrial Proteins