TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia

IRA Mackenzie, R Rademakers… - The Lancet Neurology, 2010 - thelancet.com
The Lancet Neurology, 2010thelancet.com
Abnormal intracellular protein aggregates comprise a key characteristic in most
neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS) and
frontotemporal dementia (FTD). The seminal discoveries of accumulation of TDP-43 in most
cases of ALS and the most frequent form of FTD, frontotemporal lobar degeneration with
ubiquitinated inclusions, followed by identification of FUS as the novel pathological protein
in a small subset of patients with ALS and various FTD subtypes provide clear evidence that …
Summary
Abnormal intracellular protein aggregates comprise a key characteristic in most neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The seminal discoveries of accumulation of TDP-43 in most cases of ALS and the most frequent form of FTD, frontotemporal lobar degeneration with ubiquitinated inclusions, followed by identification of FUS as the novel pathological protein in a small subset of patients with ALS and various FTD subtypes provide clear evidence that these disorders are related. The creation of a novel molecular classification of ALS and FTD based on the identity of the predominant protein abnormality has, therefore, been possible. The striking functional and structural similarities of TDP-43 and FUS, which are both DNA/RNA binding proteins, imply that abnormal RNA metabolism is a pivotal event, but the mechanisms leading to TDP-43 and FUS accumulation and the resulting neurodegeneration are currently unknown. Nonetheless, TDP-43 and FUS are promising candidates for the development of novel biomarker assays and targeted therapies.
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