Protein aggregation and neurodegenerative disease

Nat Med. 2004 Jul:10 Suppl:S10-7. doi: 10.1038/nm1066.

Abstract

Neurodegenerative diseases such as Alzheimer's disease (AD), Parkinson's disease (PD), Huntington's disease (HD), amyotrophic lateral sclerosis (ALS) and prion diseases are increasingly being realized to have common cellular and molecular mechanisms including protein aggregation and inclusion body formation. The aggregates usually consist of fibers containing misfolded protein with a beta-sheet conformation, termed amyloid. There is partial but not perfect overlap among the cells in which abnormal proteins are deposited and the cells that degenerate. The most likely explanation is that inclusions and other visible protein aggregates represent an end stage of a molecular cascade of several steps, and that earlier steps in the cascade may be more directly tied to pathogenesis than the inclusions themselves. For several diseases, genetic variants assist in explaining the pathogenesis of the more common sporadic forms and developing mouse and other models. There is now increased understanding of the pathways involved in protein aggregation, and some recent clues have emerged as to the molecular mechanisms of cellular toxicity. These are leading to approaches toward rational therapeutics.

Publication types

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

MeSH terms

  • Amyloid beta-Peptides / chemistry
  • Amyloid beta-Peptides / metabolism
  • Animals
  • Humans
  • Huntingtin Protein
  • Inclusion Bodies / metabolism*
  • Inclusion Bodies / pathology
  • Mice
  • Models, Biological
  • Nerve Tissue Proteins / metabolism
  • Neurodegenerative Diseases / etiology
  • Neurodegenerative Diseases / metabolism*
  • Neurodegenerative Diseases / pathology
  • Neurodegenerative Diseases / physiopathology
  • Nuclear Proteins / metabolism
  • Peptides / metabolism
  • Protein Folding
  • Protein Structure, Secondary
  • Ubiquitin / metabolism

Substances

  • Amyloid beta-Peptides
  • HTT protein, human
  • Htt protein, mouse
  • Huntingtin Protein
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • Peptides
  • Ubiquitin
  • polyglutamine