Development of a SCA7 patient-derived lymphoblast cell model for testing RNAi knock-down of the disease-causing gene

Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disease caused by the expansion of a CAG repeat within the ataxin-7 gene. The South African SCA7 population has been shown to have arisen due to a founder effect, and a single nucleotide polymorphism (SNP) within ataxin-7 has been linked to the SCA7 mutation in all South African patients genotyped to date. Recently, this SNP has been exploited in a potential allele-specific RNA interference (RNAi) based therapy, in order to knock down the expression of the mutant transcript in heterozygous patients. Although this approach has been tested in an artificial cellbased model of SCA7, focus has shifted towards testing the therapy in SCA7 patient-derived transformed lymphoblast cell lines

Grantor dc:publisher.institution

Division of Human Genetics

Year dc:date.issued

2011

Author dc:creator

• Berkowitz, Danielle Claire

Advisors dc:contributor.advisor

• Greenberg, Jacquie
• Scholefield, Janine
• Weinberg, Marco

Language dc:language.iso

eng

Handle dc:identifier.uri

http://hdl.handle.net/11427/10123

OAI identifier oai:identifier

oai:open.uct.ac.za:11427/10123