Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6810156 | Neurobiology of Aging | 2011 | 4 Pages |
Abstract
Neurodegenerative diseases are often characterized by the presence of aggregates of misfolded proteins. TDP-43 is a major component of these aggregates in amyotrophic lateral sclerosis (ALS), but has also been observed in Alzheimer's (AD) and Parkinson's Diseases (PD). In addition, mutations in the TARDBP gene, encoding TDP-43, have been found to be a significant cause of familial ALS (FALS). All mutations, except for one, have been found in exon 6. To confirm this observation in ALS and to investigate whether TARDBP may play a role in the pathogenesis of AD and PD, we screened for mutations in exon 6 of the TARDBP gene in three cohorts composed of 376 AD, 463 PD (18% familial PD) and 376 ALS patients (50% FALS). We found mutations in â¼7% of FALS and â¼0.5% of sporadic ALS (SALS) patients, including two novel mutations, p.N352T and p.G384R. In contrast, we did not find TARDBP mutations in our cohort of AD and PD patients. These results suggest that mutations in TARDBP are not a significant cause of AD and PD.
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Authors
Nicola Ticozzi, Ashley Lyn LeClerc, Marka van Blitterswijk, Pamela Keagle, Diane M. McKenna-Yasek, Peter C. Sapp, Vincenzo Silani, Anne-Marie Wills, Robert H. Jr., John E. Landers,