Tuesday, December 12, 2006

CNS and centrality of the cytoskeleon

That cytoskeletal proteins provide a fundamental organising principle for a cell has been appreciated for a long time. However, the centrality of these proteins in disease progression and aging has been realised more recently. Ikeda and coworkers have reported that mutations in bIII spectrin, a cytoskeletal protein expressed abundantly in Purkinje cells, result in spinocerebellar ataxia type 5 (SCA5). Interestingly, the pedigree studied was from President Lincoln's family. The mutations reported result in destabilization of the glutamate transporter EAAT4 resulting in impaired glutamate signalling. While mutations in subunits of the EAAT4 have been shown to affect their assembly and therefore their function, this report draws attention to the importance of the cytoskeleton in proper assembly and stability of subcellular organelles and domains.

1 comment:

Reuel said...

Ataxia is unsteady and clumsy motion of the body due to a failure of fine muscle coordination. SCA types are reviewed here.