Disease-related Huntingtin seeding activities in cerebrospinal fluids of Huntington's disease patients

Sci Rep. 2020 Nov 20;10(1):20295. doi: 10.1038/s41598-020-77164-1.

Abstract

In Huntington's disease (HD), the mutant Huntingtin (mHTT) is postulated to mediate template-based aggregation that can propagate across cells. It has been difficult to quantitatively detect such pathological seeding activities in patient biosamples, e.g. cerebrospinal fluids (CSF), and study their correlation with the disease manifestation. Here we developed a cell line expressing a domain-engineered mHTT-exon 1 reporter, which showed remarkably high sensitivity and specificity in detecting mHTT seeding species in HD patient biosamples. We showed that the seeding-competent mHTT species in HD CSF are significantly elevated upon disease onset and with the progression of neuropathological grades. Mechanistically, we showed that mHTT seeding activities in patient CSF could be ameliorated by the overexpression of chaperone DNAJB6 and by antibodies against the polyproline domain of mHTT. Together, our study developed a selective and scalable cell-based tool to investigate mHTT seeding activities in HD CSF, and demonstrated that the CSF mHTT seeding species are significantly associated with certain disease states. This seeding activity can be ameliorated by targeting specific domain or proteostatic pathway of mHTT, providing novel insights into such pathological activities.

Publication types

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

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Brain / pathology
  • Cell Line
  • Cerebrospinal Fluid / metabolism*
  • Exons / genetics
  • Female
  • Genes, Reporter / genetics
  • HSP40 Heat-Shock Proteins / genetics
  • HSP40 Heat-Shock Proteins / metabolism*
  • Humans
  • Huntingtin Protein / cerebrospinal fluid
  • Huntingtin Protein / genetics
  • Huntingtin Protein / metabolism*
  • Huntington Disease / cerebrospinal fluid
  • Huntington Disease / genetics
  • Huntington Disease / pathology*
  • Intravital Microscopy
  • Male
  • Middle Aged
  • Molecular Chaperones / genetics
  • Molecular Chaperones / metabolism*
  • Mutation
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / metabolism*
  • Protein Aggregation, Pathological / cerebrospinal fluid
  • Protein Aggregation, Pathological / genetics
  • Protein Aggregation, Pathological / pathology*
  • Protein Domains / genetics
  • Protein Engineering
  • Protein Folding

Substances

  • DNAJB6 protein, human
  • HSP40 Heat-Shock Proteins
  • HTT protein, human
  • Huntingtin Protein
  • Molecular Chaperones
  • Nerve Tissue Proteins