Lamin B1 duplications cause autosomal dominant leukodystrophy
作者： Quasar S Padiath , Kazumasa Saigoh , Raphael Schiffmann , Hideaki Asahara , Takeshi Yamada
DOI: 10.1038/NG1872
关键词:
摘要: Adult-onset autosomal dominant leukodystrophy (ADLD) is a slowly progressive neurological disorder characterized by symmetrical widespread myelin loss in the central nervous system, with phenotype similar to chronic multiple sclerosis. In this study, we identify genomic duplication that causes ADLD. Affected individuals carry an extra copy of gene for nuclear laminar protein lamin B1, resulting increased dosage brain tissue from Increased expression B1 Drosophila melanogaster resulted degenerative phenotype. addition, abnormal morphology was apparent when cultured cells overexpressed protein. This first human disease attributable mutations encoding B1. Antibodies B are found autoimmune diseases, and it also antigen recognized monoclonal antibody raised against plaques brains raises possibility may be link attack occurs
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