MMP-14 overexpression correlates with the neurodegenerative process in familial amyloidotic polyneuropathy

Dis Model Mech. 2017 Oct 1;10(10):1253-1260. doi: 10.1242/dmm.028571.

Abstract

Levels of matrix metalloproteases (MMPs) can be differentially regulated in response to injury or neurological diseases. For instance, it is known that selective and short-term inhibition of MMP-14, a membrane-type 1 MMP, accelerates axon regeneration. Because axon growth and regeneration is impaired in familial amyloidotic polyneuropathy (FAP), a neurodegenerative disorder characterized by misfolding and deposition of mutant transthyretin (TTR) in the peripheral nervous system (PNS), we presently investigated the expression levels and the potential role for MMP-14 in this condition. By using cell culture studies, a mouse model of disease and human clinical samples, we observed that MMP-14: (i) is overexpressed in FAP nerves, correlating with TTR deposition; (ii) is upregulated in sciatic nerves from a preclinical transgenic mouse model, increasing with TTR deposition; (iii) levels in the PNS and plasma are rescued upon treatment of mice with anakinra or TTR siRNA, drugs acting over the IL-1 signaling pathway or TTR liver synthesis, respectively; (iv) increases in Schwann cells upon incubation with amyloid-like aggregates; and, finally, (v) is increased in plasma of FAP patients, correlating with disease progression. These results highlight the relevance of MMP-14 in the pathophysiology of FAP, suggesting not only a potential role for this molecule as a novel biomarker for therapy follow up, but also as a new potential therapeutic target.

Keywords: Familial amyloidotic polyneuropathy; MMP-14; Neurodegeneration; Neuroinflammation; Peripheral nervous system.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amyloid Neuropathies, Familial / blood
  • Amyloid Neuropathies, Familial / enzymology*
  • Amyloid Neuropathies, Familial / pathology
  • Amyloid Neuropathies, Familial / therapy
  • Animals
  • Case-Control Studies
  • Cells, Cultured
  • Disease Models, Animal
  • Enzyme Induction
  • Humans
  • Interleukin 1 Receptor Antagonist Protein / pharmacology
  • Liver / metabolism
  • Matrix Metalloproteinase 14 / biosynthesis
  • Matrix Metalloproteinase 14 / blood*
  • Matrix Metalloproteinase 14 / genetics
  • Mice, 129 Strain
  • Mice, Transgenic
  • Nerve Degeneration*
  • Prealbumin / genetics
  • Prealbumin / metabolism
  • RNA Interference
  • RNAi Therapeutics
  • Schwann Cells / metabolism
  • Schwann Cells / pathology
  • Sciatic Nerve / drug effects
  • Sciatic Nerve / enzymology*
  • Sciatic Nerve / pathology
  • Signal Transduction
  • Sural Nerve / enzymology*
  • Sural Nerve / pathology
  • Time Factors

Substances

  • Interleukin 1 Receptor Antagonist Protein
  • Mmp14 protein, mouse
  • Prealbumin
  • MMP14 protein, human
  • Matrix Metalloproteinase 14