Amyotrophic Lateral Sclerosis

Researchers' work from University of Sydney focuses on amyotrophic lateral sclerosis

Published in Blood Weekly, December 31st, 2009

According to recent research from Sydney, Australia, "All patients with sporadic amyotrophic lateral sclerosis (SALS) have TDP-43 inclusions in their motor neurons, suggesting this protein plays a major role in the disease. Coding mutations in the gene for TDP-43, TARDBP, have been found in only a few patients with SALS. However. the non-coding regulatory regions of TARDBP have not yet been examined in SALS."

"We therefore sequenced both coding and non-coding regions of TARDBP in 46 tissue-banked SALS brains (brain DNA was used to detect somatic mutations). Non-coding variants (in the promoter or intron 1) were detected in 16 patients (35%) and coding variants in 4...

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Source: Blood Weekly (2009-12-31)

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