The homozygote VCP(R¹⁵⁵H/R¹⁵⁵H) mouse model exhibits accelerated human VCP-associated disease pathology

PLoS One. 2012;7(9):e46308. doi: 10.1371/journal.pone.0046308. Epub 2012 Sep 28.

Abstract

Valosin containing protein (VCP) mutations are the cause of hereditary inclusion body myopathy, Paget's disease of bone, frontotemporal dementia (IBMPFD). VCP gene mutations have also been linked to 2% of isolated familial amyotrophic lateral sclerosis (ALS). VCP is at the intersection of disrupted ubiquitin proteasome and autophagy pathways, mechanisms responsible for the intracellular protein degradation and abnormal pathology seen in muscle, brain and spinal cord. We have developed the homozygous knock-in VCP mouse (VCP(R155H/R155H)) model carrying the common R155H mutations, which develops many clinical features typical of the VCP-associated human diseases. Homozygote VCP(R155H/R155H) mice typically survive less than 21 days, exhibit weakness and myopathic changes on EMG. MicroCT imaging of the bones reveal non-symmetrical radiolucencies of the proximal tibiae and bone, highly suggestive of PDB. The VCP(R155H/R155H) mice manifest prominent muscle, heart, brain and spinal cord pathology, including striking mitochondrial abnormalities, in addition to disrupted autophagy and ubiquitin pathologies. The VCP(R155H/R155H) homozygous mouse thus represents an accelerated model of VCP disease and can be utilized to elucidate the intricate molecular mechanisms involved in the pathogenesis of VCP-associated neurodegenerative diseases and for the development of novel therapeutic strategies.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Adenosine Triphosphatases / metabolism
  • Amyotrophic Lateral Sclerosis / genetics*
  • Amyotrophic Lateral Sclerosis / metabolism
  • Amyotrophic Lateral Sclerosis / pathology
  • Animals
  • Brain / metabolism
  • Brain / pathology
  • Cell Cycle Proteins / genetics*
  • Cell Cycle Proteins / metabolism
  • Disease Models, Animal*
  • Founder Effect
  • Frontotemporal Dementia / genetics*
  • Frontotemporal Dementia / metabolism
  • Frontotemporal Dementia / pathology
  • Gene Knock-In Techniques
  • Homozygote
  • Humans
  • Mice
  • Mice, Transgenic*
  • Mitochondria / metabolism
  • Mitochondria / pathology
  • Muscles / metabolism
  • Muscles / pathology
  • Myocardium / metabolism
  • Myocardium / pathology
  • Myositis, Inclusion Body / genetics*
  • Myositis, Inclusion Body / metabolism
  • Myositis, Inclusion Body / pathology
  • Osteitis Deformans / genetics*
  • Osteitis Deformans / metabolism
  • Osteitis Deformans / pathology
  • Point Mutation
  • Spinal Cord / metabolism
  • Spinal Cord / pathology
  • Valosin Containing Protein

Substances

  • Cell Cycle Proteins
  • Adenosine Triphosphatases
  • VCP protein, human
  • Valosin Containing Protein
  • Vcp protein, mouse

Supplementary concepts

  • Amyotrophic lateral sclerosis 1