Caspase-6 activity in a BACHD mouse modulates steady-state levels of mutant huntingtin protein but is not necessary for production of a 586 amino acid proteolytic fragment

J Neurosci. 2012 May 30;32(22):7454-65. doi: 10.1523/JNEUROSCI.6379-11.2012.

Abstract

Huntington's disease (HD) is caused by a mutation in the huntingtin (htt) gene encoding an expansion of glutamine repeats at the N terminus of the Htt protein. Proteolysis of Htt has been identified as a critical pathological event in HD models. In particular, it has been postulated that proteolysis of Htt at the putative caspase-6 cleavage site (at amino acid Asp-586) plays a critical role in disease progression and pathogenesis. However, whether caspase-6 is indeed the essential enzyme that cleaves Htt at this site in vivo has not been determined. To evaluate, we crossed the BACHD mouse model with a caspase-6 knock-out mouse (Casp6(-/-)). Western blot and immunocytochemistry confirmed the lack of caspase-6 protein in Casp6(-/-) mice, regardless of HD genotype. We predicted the Casp6(-/-) mouse would have reduced levels of caspase-6 Htt fragments and increased levels of full-length Htt protein. In contrast, we found a significant reduction of full-length mutant Htt (mHtt) and fragments in the striatum of BACHD Casp6(-/-) mice. Importantly, we detected the presence of Htt fragments consistent with cleavage at amino acid Asp-586 of Htt in the BACHD Casp6(-/-) mouse, indicating that caspase-6 activity cannot fully account for the generation of the Htt 586 fragment in vivo. Our data are not consistent with the hypothesis that caspase-6 activity is critical in generating a potentially toxic 586 aa Htt fragment in vivo. However, our studies do suggest a role for caspase-6 activity in clearance pathways for mHtt protein.

Publication types

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

MeSH terms

  • Age Factors
  • Amino Acids / genetics
  • Amino Acids / metabolism
  • Animals
  • Aspartic Acid / genetics
  • Aspartic Acid / metabolism*
  • Body Weight / genetics
  • Brain / metabolism
  • Brain / pathology
  • Caspase 6 / deficiency
  • Caspase 6 / metabolism*
  • Cells, Cultured
  • Corpus Striatum / cytology
  • Disease Models, Animal
  • Embryo, Mammalian
  • Exploratory Behavior / physiology
  • Female
  • Gene Expression Regulation / genetics*
  • Huntingtin Protein
  • Huntington Disease / genetics
  • Huntington Disease / metabolism*
  • Huntington Disease / pathology
  • Huntington Disease / physiopathology*
  • Magnetic Resonance Imaging
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Mice, Mutant Strains
  • Motor Activity / genetics
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / metabolism*
  • Neurons
  • Proteolysis
  • RNA, Small Interfering / metabolism
  • Rotarod Performance Test
  • Trinucleotide Repeat Expansion / genetics
  • Ubiquitination / genetics

Substances

  • Amino Acids
  • HTT protein, human
  • Huntingtin Protein
  • Nerve Tissue Proteins
  • RNA, Small Interfering
  • Aspartic Acid
  • Caspase 6