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ALS Study Links Mutations in TDP-43 Gene
March 01, 2024
The discovery of a new gene that causes some forms of ALS will enable the development of new model systems to understand the disease and develop new treatments. The discovery, to be published in Science, links mutations in the TDP-43 gene to cases of both familial and sporadic ALS.
TDP-43 (TAR DNA binding protein 43) has been previously identified as a major component of the "inclusions," or protein clumps, found in the motor neurons of ALS patients. Motor neurons die off in ALS. Until now, however, it was unknown whether TDP-43 contributed to the disease, or was an innocent bystander. The normal function of TDP-43 is unknown.
The researchers found single base changes (mutations) in the TDP-43 gene (formally known as TARDBP) in five affected members of one family, versus none of the unaffected members. They also found mutations in two ALS patients with no family history of the disease (sporadic ALS). No mutations were found in 1,262 unaffected controls, or in 523 other ALS cases. In all, three mutations were found, all affecting one region of the protein. In the familial case, the mutation was inherited in an autosomal dominant fashion (one mutant copy was sufficient to cause the disease).
The discovery confirms that in at least some cases of ALS, TDP-43 is playing a direct role in causing the disease.
Source: ALS Association
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