TARDBP

Amyotrophic lateral sclerosis is a neurological disease which impacts motor neurons that are involved in muscle movement throughout the body. The progressive degeneration of neurons causes weakened muscles and can lead to paralysis. There is no cure for ALS, but riluzole has been used to help with the damage to the motor neurons.

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The TARDBP gene codes for a transcriptional repressor protein known as TDP-43. The protein encoded by the TARDBP gene binds TAR DNA and functions to regulate translation. TDP-43 can also bind RNA which leads to transcriptional repression and the formation of splice variants encoding alternate forms of proteins. Additionally, the TARDBP gene plays an important role in mRNA transport.

Neurofilaments (NFs) are intermediate filaments found almost exclusively in neuronal cells, and play an essential role supporting the cytoskeleton. In vertebrates they are composed of three intertwining polypeptide subunits of varying length and molecular weight – the 68kDa light, 160kDa medium and 200kDa heavy Neurofilament chains.