TDP-43 in central nervous system development and function: clues to TDP-43-associated neurodegeneration

Biol Chem. 2012 Jul;393(7):589-94. doi: 10.1515/hsz-2012-0115.

Abstract

From the earliest stages of embryogenesis and throughout life, transcriptional regulation is carefully orchestrated in order to generate, shape, and reshape the central nervous system (CNS). TAR DNA-binding protein 43 (TDP-43) is identified as a regulator of essential transcriptional events in the CNS. Evidence for its importance comes from the identification of TDP-43 protein aggregates and genetic mutations in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Efforts are being made to learn more about the biological function of TDP-43 and gain a better understanding of its role in neurodegeneration. TDP-43 RNA targets and protein interactions have now been identified, and in vivo evidence shows that TDP-43 is essential in CNS development and function. This review will highlight aspects of these findings.

Publication types

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

MeSH terms

  • Animals
  • Brain / growth & development
  • Brain / metabolism
  • Brain / physiology*
  • Brain / physiopathology*
  • DNA-Binding Proteins / chemistry
  • DNA-Binding Proteins / genetics
  • DNA-Binding Proteins / metabolism*
  • Humans
  • Neurodegenerative Diseases / metabolism*
  • Neurodegenerative Diseases / physiopathology
  • RNA / metabolism
  • Ribonucleoproteins / metabolism
  • Spinal Cord / growth & development
  • Spinal Cord / metabolism
  • Spinal Cord / physiology*
  • Spinal Cord / physiopathology*

Substances

  • DNA-Binding Proteins
  • Ribonucleoproteins
  • RNA