Nuclear accumulation of truncated atrophin-1 fragments in a transgenic mouse model of DRPLA

Neuron. 1999 Sep;24(1):275-86. doi: 10.1016/s0896-6273(00)80839-9.

Abstract

Dentatorubral and pallidoluysian atrophy (DRPLA) is a member of a family of progressive neurodegenerative diseases caused by polyglutamine repeat expansion. Transgenic mice expressing full-length human atrophin-1 with 65 consecutive glutamines exhibit ataxia, tremors, abnormal movements, seizures, and premature death. These mice accumulate atrophin-1 immunoreactivity and inclusion bodies in the nuclei of multiple populations of neurons. Subcellular fractionation revealed 120 kDa nuclear fragments of mutant atrophin-1, whose abundance increased with age and phenotypic severity. Brains of DRPLA patients contained apparently identical 120 kDa nuclear fragments. By contrast, mice overexpressing atrophin-1 with 26 glutamines were phenotypically normal and did not accumulate the 120 kDa fragments. We conclude that the evolution of neuropathology in DRPLA involves proteolytic processing of mutant atrophin-1 and nuclear accumulation of truncated fragments.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Animals
  • Ataxia
  • Brain / pathology
  • Cell Nucleus / metabolism*
  • Child
  • Chorea
  • Disease Models, Animal*
  • Female
  • Humans
  • Male
  • Mice
  • Mice, Transgenic
  • Multiple System Atrophy / genetics
  • Multiple System Atrophy / metabolism*
  • Multiple System Atrophy / pathology
  • Nerve Tissue Proteins / genetics*
  • Nerve Tissue Proteins / metabolism*
  • Neurodegenerative Diseases / genetics
  • Neurodegenerative Diseases / metabolism*
  • Peptide Fragments / metabolism*
  • Repetitive Sequences, Nucleic Acid
  • Tremor

Substances

  • Nerve Tissue Proteins
  • Peptide Fragments
  • atrophin-1