Familial conformational diseases and dementias

Hum Mutat. 2002 Jul;20(1):1-14. doi: 10.1002/humu.10100.

Abstract

Familial conformational diseases occur when a mutation alters the conformation of a protein resulting in abnormal intermolecular interactions, protein aggregation, and consequent tissue damage. The molecular mechanisms of conformational disease are best understood for the serine protease inhibitor (serpin) superfamily of proteins. The serpinopathies include alpha(1)-antitrypsin (SERPINA1) deficiency and the newly characterized familial encephalopathy with neuroserpin inclusion bodies (FENIB) resulting from mutations in the neuroserpin (SERPINI1) gene. This review discusses how insights gained from the study of the serpins may be used to guide our research into other common diseases such as Alzheimer disease, Huntington disease, and Parkinson disease.

Publication types

  • Review

MeSH terms

  • Brain Diseases / genetics
  • Dementia / genetics*
  • Family Health
  • Humans
  • Mutation
  • Neuropeptides / genetics
  • Protein Conformation*
  • Serpins / chemistry*
  • Serpins / genetics
  • alpha 1-Antitrypsin / chemistry

Substances

  • Neuropeptides
  • Serpins
  • alpha 1-Antitrypsin
  • neuroserpin