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Spectrin mutations in spinocerebellar ataxia (SCA)
Author(s) -
Bauer Peter,
Schöls Ludger,
Riess Olaf
Publication year - 2006
Publication title -
bioessays
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.175
H-Index - 184
eISSN - 1521-1878
pISSN - 0265-9247
DOI - 10.1002/bies.20443
Subject(s) - neurodegeneration , spinocerebellar ataxia , ataxia , biology , spectrin , genetics , c9orf72 , gene , mutation , neuroscience , cytoskeleton , trinucleotide repeat expansion , microbiology and biotechnology , disease , medicine , cell , allele
Recently, βIII spectrins have been recognized as ataxia disease genes, with the identification by Ikeda and co‐workers of pathogenic mutations in the SPTBN2 gene in three large (and mapped) SCA5 families of American and European origin. (1) With their discovery, the large “Lincoln” family has been traced back to the underlying genetic defect for the slowly progressive cerebellar ataxia. In addition, the involvement of this component of the cytoskeleton directs attention towards the possible role of organelle stability during neurodegeneration. The findings suggest that the mechanical properties of neurons and their dynamics may be as important as altered Ca 2+ homeostasis, transcriptional dysregulation, and impaired protein degradation in neurodegeneration conditions. BioEssays 28: 785–787, 2006. © 2006 Wiley Periodicals, Inc.