Pathogenesis of spinocerebellar ataxias viewed from the RNA perspective.
The underlying cause of a number of autosomal dominant spinocerebellar ataxias is the expansion of various types of simple sequence repeats located in diverse functional regions of different single genes. The genetic heterogeneity of these diseases which contrasts with the similarity of their pathology sites and clinical symptoms justifies the search for the shared mechanism of pathogenesis. In this article we discuss the arguments which are in favor of the RNA-mediated pathomechanism.
Michlewski
Gracjan
G
Laboratory of Cancer Genetics, Institute of Bioorganic Chemistry, Polish Academy of Sciences, Poznan, Poland.
Krzyzosiak
Wlodzimierz J
WJ
D006579:Heterozygote; D006801:Humans; D008958:Models, Molecular; D008959:Models, Neurological; D012313:RNA; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000473:pathology; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
D012313:RNA