Furthermore, patient age at the onset of disease symptoms shows a good inverse correlation with mutant TDP-43 half-life.
Cytoplasmic mislocalization and elevated half-life is a characteristic of mutant TDP-43. Mutant or posttranslationally modified TAR DNA binding protein-32 (TDP-43) is also strongly associated with ALS and an increasingly large number of other neurodegenerative diseases, including frontotemporal lobar degeneration (FTLD). An archetype example of this is superoxide dismutase-1, the first genetic factor to be linked with amyotrophic lateral sclerosis (ALS). A common feature of these diseases is abnormal, and possibly pathogenic, aggregation of specific proteins in the effected tissue often resulting from inherent or decreased structural stability. Over the last two decades many secrets of the age-related human neural proteinopathies have been revealed.
