Evaluation of the role of the D2 dopamine receptor in myoclonus dystonia

Ile mutation in the D2 dopamine receptor (DRD2) on chromosome 11q23 has recently been shown to be associated with myoclonus dystonia (M-D) in one large family. Sequence analysis of the DRD2 gene in 5 M-D patients from different families did not reveal any mutations, nor was there evidence of linkage to the 11q23 region in the DRD2 gene in four other families. Receptor binding and signal transduction assays of the DRD2 mutant and wild-type receptors revealed identical agonist and antagonist affinities and functional responses. These studies suggest that M-D is genetically heterogeneous. The molecular mechanisms through which the Val-->Ile mutation may contribute to M-D remain to be determined. -->
ISSN: 1531-8249
0364-5134
DOI: 10.1002/1531-8249(200003)47:3<369::aid-ana14>3.0.co;2-9
Přístupová URL adresa: https://explore.openaire.eu/search/publication?articleId=doi_________::841a9f1b11a99972b56761adaa7875af
https://doi.org/10.1002/1531-8249(200003)47:3<369::aid-ana14>3.0.co;2-9
Rights: CLOSED
Přírůstkové číslo: edsair.doi...........841a9f1b11a99972b56761adaa7875af
Autor: Lars Forsgren, Gösta Holmgren, Patricia L. Kramer, P. Vieregge, Barbara J. Ebersole, Xandra O. Breakefield, Anthony E. Lang, Gunnar Sanner, M Kyllerman, Stephen P. Fink, Jan Wahlström, Stuart C. Sealfon, Jennifer Friedman, Christine Klein, Nadia Gurvich, Deborah Raymond, Joanne Leung, Susan B. Bressman, Mitchell F. Brin, Miguel Sena-Esteves, Deborah de Leon, Laurie J. Ozelius, David Grimes, Rachel Saunders-Pullman, Cassandra Prioleau
Rok vydání: 2000
Předmět:
Zdroj: Annals of Neurology. 47:369-373
ISSN: 1531-8249
0364-5134
DOI: 10.1002/1531-8249(200003)47:3<369::aid-ana14>3.0.co;2-9
Popis: A novel Val154-->Ile mutation in the D2 dopamine receptor (DRD2) on chromosome 11q23 has recently been shown to be associated with myoclonus dystonia (M-D) in one large family. Sequence analysis of the DRD2 gene in 5 M-D patients from different families did not reveal any mutations, nor was there evidence of linkage to the 11q23 region in the DRD2 gene in four other families. Receptor binding and signal transduction assays of the DRD2 mutant and wild-type receptors revealed identical agonist and antagonist affinities and functional responses. These studies suggest that M-D is genetically heterogeneous. The molecular mechanisms through which the Val-->Ile mutation may contribute to M-D remain to be determined.
Databáze: OpenAIRE
Externí odkaz: