WF Blue Project: Difference between revisions
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==Project Overview== | ==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 | 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== | ==Background Information== | ||
Revision as of 20:17, 1 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
Ashkenazi Jews Tay Sachs disease genetic basis:
http://www.jbc.org/content/263/35/18587.abstract
Oligonucleotide treatment for DMD:
http://www.ncbi.nlm.nih.gov/pubmed/16285002
http://www.sciencedirect.com/science/article/pii/S0140673611607563
