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Review
. 2010 Oct;42(10):1606-9.
doi: 10.1016/j.biocel.2010.06.016. Epub 2010 Jun 25.

TDP-43: a DNA and RNA binding protein with roles in neurodegenerative diseases

Sadaf T Warraich  1 , Shu Yang, Garth A Nicholson, Ian P Blair
Affiliations
Review

TDP-43: a DNA and RNA binding protein with roles in neurodegenerative diseases

Sadaf T Warraich et al. Int J Biochem Cell Biol. 2010 Oct.

Abstract

Transactive response DNA binding protein 43 kDa (TDP-43) is a DNA and RNA binding protein involved in RNA processing and with structural resemblance to heterogeneous ribonucleoproteins (hnRNPs). TDP-43 serves multiple functions with roles in transcriptional regulation, pre-mRNA splicing and translational regulation. TDP-43 is also crucial for embryonic development with increasing evidence indirectly implicating its involvement in other cellular processes including microRNA biogenesis, apoptosis and cell division. The role of TDP-43 in neurodegeneration has been actively studied since identification as a major component of the ubiquitinated inclusions seen in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). TDP-43 pathology has also been identified in several other neurodegenerative diseases. These disorders are collectively referred to as TDP-43 proteinopathies. The identification of rare TDP-43 mutations in sporadic and familial forms of ALS and FTLD suggests TDP-43 plays an important pathogenic role, rather than merely being a marker of the disease.

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