Molecular and cellular aspects of protein misfolding and disease

FASEB J. 2008 Jul;22(7):2115-33. doi: 10.1096/fj.07-099671. Epub 2008 Feb 26.

Abstract

Proteins are essential elements for life. They are building blocks of all organisms and the operators of cellular functions. Humans produce a repertoire of at least 30,000 different proteins, each with a different role. Each protein has its own unique sequence and shape (native conformation) to fulfill its specific function. The appearance of incorrectly shaped (misfolded) proteins occurs on exposure to environmental changes. Protein misfolding and the subsequent aggregation is associated with various, often highly debilitating, diseases for which no sufficient cure is available yet. In the first part of this review we summarize the structural composition of proteins and the current knowledge of underlying forces that lead proteins to lose their native structure. In the second and third parts we describe the molecular and cellular mechanisms that are associated with protein misfolding in disease. Finally, in the last part we portray recent efforts to develop treatments for protein misfolding diseases.

Publication types

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

MeSH terms

  • Blood Proteins / chemistry
  • Blood Proteins / metabolism
  • Disease*
  • Enzymes / chemistry
  • Enzymes / metabolism
  • Humans
  • Models, Molecular
  • Platelet Activation
  • Protein Binding
  • Protein Conformation
  • Protein Folding*
  • Proteins / chemistry*
  • Proteins / metabolism*
  • Vascular Diseases / etiology*

Substances

  • Blood Proteins
  • Enzymes
  • Proteins