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- Title
Mutant dynactin in motor neuron disease.
- Authors
Puls, Imke; Jonnakuty, Catherine; LaMonte, Bernadette H; Holzbaur, Erika L F; Tokito, Mariko; Mann, Eric; Floeter, Mary Kay; Bidus, Kimberly; Drayna, Dennis; Oh, Shin J; Brown, Robert H, Jr; Ludlow, Christy L; Fischbeck, Kenneth H
- Abstract
Impaired axonal transport in motor neurons has been proposed as a mechanism for neuronal degeneration in motor neuron disease. Here we show linkage of a lower motor neuron disease to a region of 4 Mb at chromosome 2p13. Mutation analysis of a gene in this interval that encodes the largest subunit of the axonal transport protein dynactin showed a single base-pair change resulting in an amino-acid substitution that is predicted to distort the folding of dynactin's microtubule-binding domain. Binding assays show decreased binding of the mutant protein to microtubules. Our results show that dysfunction of dynactin-mediated transport can lead to human motor neuron disease.
- Publication
Nature genetics, 2003, Vol 33, Issue 4, p455
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/ng1123