Serine 421 regulates mutant huntingtin toxicity and clearance in mice

J Clin Invest. 2016 Sep 1;126(9):3585-97. doi: 10.1172/JCI80339. Epub 2016 Aug 15.

Abstract

Huntington's disease (HD) is a progressive, adult-onset neurodegenerative disease caused by a polyglutamine (polyQ) expansion in the N-terminal region of the protein huntingtin (HTT). There are no cures or disease-modifying therapies for HD. HTT has a highly conserved Akt phosphorylation site at serine 421, and prior work in HD models found that phosphorylation at S421 (S421-P) diminishes the toxicity of mutant HTT (mHTT) fragments in neuronal cultures. However, whether S421-P affects the toxicity of mHTT in vivo remains unknown. In this work, we used murine models to investigate the role of S421-P in HTT-induced neurodegeneration. Specifically, we mutated the human mHTT gene within a BAC to express either an aspartic acid or an alanine at position 421, mimicking tonic phosphorylation (mHTT-S421D mice) or preventing phosphorylation (mHTT-S421A mice), respectively. Mimicking HTT phosphorylation strongly ameliorated mHTT-induced behavioral dysfunction and striatal neurodegeneration, whereas neuronal dysfunction persisted when S421 phosphorylation was blocked. We found that S421 phosphorylation mitigates neurodegeneration by increasing proteasome-dependent turnover of mHTT and reducing the presence of a toxic mHTT conformer. These data indicate that S421 is a potent modifier of mHTT toxicity and offer in vivo validation for S421 as a therapeutic target in HD.

Publication types

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

MeSH terms

  • Alanine / chemistry
  • Animals
  • Aspartic Acid / chemistry
  • Behavior, Animal
  • Chromosomes, Artificial, Bacterial
  • Disease Models, Animal
  • Disease Progression
  • Female
  • Gait
  • Genotype
  • Humans
  • Huntingtin Protein / chemistry
  • Huntingtin Protein / genetics*
  • Huntington Disease / genetics*
  • Male
  • Maze Learning
  • Mice
  • Mice, Transgenic
  • Mutation
  • Nerve Tissue Proteins / genetics
  • Neurodegenerative Diseases / metabolism
  • Neurons / metabolism
  • Nuclear Proteins / genetics
  • Phenotype
  • Phosphorylation
  • Proteasome Endopeptidase Complex / metabolism
  • Serine / chemistry*

Substances

  • Htt protein, mouse
  • Huntingtin Protein
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • Aspartic Acid
  • Serine
  • Proteasome Endopeptidase Complex
  • Alanine