TDP-43 is a culprit in human neurodegeneration, and not just an innocent bystander

Mamm Genome. 2008 May;19(5):299-305. doi: 10.1007/s00335-008-9117-x. Epub 2008 Jul 1.

Abstract

In 2006 the protein TDP-43 was identified as the major ubiquitinated component deposited in the inclusion bodies found in two human neurodegenerative diseases, amyotrophic lateral sclerosis and frontotemporal lobar degeneration. The pathogenesis of both disorders is unclear, although they are related by having some overlap of symptoms and now by the shared histopathology of TDP-43 deposition. Now, in 2008, several papers have been published in quick succession describing mutations in the TDP-43 gene, showing they can be a primary cause of amyotrophic lateral sclerosis. There are many precedents in neurodegenerative disease in which rare single-gene mutations have given great insight into understanding disease processes, which is why the TDP-43 mutations are potentially very important.

Publication types

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

MeSH terms

  • Animals
  • DNA-Binding Proteins / chemistry
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / physiology
  • Genetic Diseases, Inborn / genetics
  • Humans
  • Models, Biological
  • Mutation / physiology
  • Neurodegenerative Diseases / genetics*
  • Plaque, Amyloid / genetics

Substances

  • DNA-Binding Proteins