WF Blue Project: Difference between revisions
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==Background Information== | ==Background Information== | ||
<b>The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase </b> | <b>The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase </b> [http://www.jbc.org/content/263/35/18587.full.pdf Myerowitz, et al., 1988] | ||
This paper describes how a common mutation in Tay-Sachs is a 4 base pair insertion in exon 11 that results in a splice junction defect and pre-mature termination of beta-hexosaminidase. | This paper describes how a common mutation in Tay-Sachs is a 4 base pair insertion in exon 11 that results in a splice junction defect and pre-mature termination of beta-hexosaminidase. | ||
<b>Dystrophin expression in the mdx mouse after localised and systemic administration of a morpholino antisense oligonucleotide </b> | <b>Dystrophin expression in the mdx mouse after localised and systemic administration of a morpholino antisense oligonucleotide </b> [http://onlinelibrary.wiley.com/store/10.1002/jgm.838/asset/838_ftp.pdf?v=1&t=h1qpu4d2&s=f7a9e0f3f78de017e9eee7df3335c914a5170b0b Fletcher, et al., 2005] | ||
[http://onlinelibrary.wiley.com/store/10.1002/jgm.838/asset/838_ftp.pdf?v=1&t=h1qpu4d2&s=f7a9e0f3f78de017e9eee7df3335c914a5170b0b Fletcher, et al., 2005] | |||
Studies were performed on ''mdx'' mice, or mice exhibiting a nonsense mutation in exon 23 of the dystrophin gene. Antisense oligonulceotides were administered to the mice, along with 2-O-methylphosphorothioate and peptide nucleic acid | Studies were performed on ''mdx'' mice, or mice exhibiting a nonsense mutation in exon 23 of the dystrophin gene. Antisense oligonulceotides were administered to the mice, along with 2-O-methylphosphorothioate and peptide nucleic acid | ||
Revision as of 11:34, 2 May 2012
WF Blue Members
Project Overview
Tay Sachs is a genetic disorder due to the inheritance of two autosomal recessive alleles. It results in the degeneration of mental and physical capacities, starting at 6 months of age and usually leading to death by four years of age. Tay Sachs is due to a chromosomal mutation in the HEXA gene of chromosome 15, a common mutation is the product of a 4 base pair insertion in exon 11. Prior studies have been done in mice and humans exhibiting Duchenne muscular dystrophy in which oligonucleotide sequences bind to an exon, inducing exon-skipping when splicing occurs. This exon skipping restores the original reading frame and helps to counteract the original mutation effects. Such a system of oligonucleotide induced exon-skipping could also aid in restoring the original reading frame in certain Tay Sachs mutations.
Background Information
The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase Myerowitz, et al., 1988
This paper describes how a common mutation in Tay-Sachs is a 4 base pair insertion in exon 11 that results in a splice junction defect and pre-mature termination of beta-hexosaminidase.
Dystrophin expression in the mdx mouse after localised and systemic administration of a morpholino antisense oligonucleotide Fletcher, et al., 2005
Studies were performed on mdx mice, or mice exhibiting a nonsense mutation in exon 23 of the dystrophin gene. Antisense oligonulceotides were administered to the mice, along with 2-O-methylphosphorothioate and peptide nucleic acid
http://www.sciencedirect.com/science/article/pii/S0140673611607563
