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RNAi for neurological diseases

Published on August 5, 2014   48 min

Other Talks in the Series: Gene Transfer and Gene Therapy

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RNAi for Neurological Diseases. My name is Beverly Davidson. I work at the Center for Cell and Molecular Therapy at the Children's Hospital of Philadelphia.
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I'm going to talk today about RNAi interference for repeat expansion diseases. Shown is a schematic of a gene indicating a disease repeat sequence in the location of the repeat within the gene. For example, all but one CAG repeat, SCA12 is in the protein coding region. These, therefore, encode polyglutamine in the disease containing proteins. Other repeats, for example the GAA in Friereich's Ataxia, is in a non-coding region, in this instance, in the intronic region. There are examples of other repeats, for example CTG repeats in three prime UTRs in mitotic dystrophy, also known as DM1. And also CGG repeats in the Fragile X locus. These occur in the five prime UTR. Purposes of today's talk, I'm going to focus on the repeat expansion diseases that are due to polyglutamine expansion, or CAG repeat expansion, in the genes that, when mutated, caused the diseases known as spinocerebellar ataxia or SCA type one, type two, type six, type seven, or Huntington's disease, denoted here as HD. I will only be presenting data on SCA1 and Huntington's disease today, although in my laboratory work on all of those that are highlighted below.