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Researchers Design Small Molecule That Inhibits Pathology Associated With Myotonic Dystrophy Type 1
The new compound, soon to be tested in cells, binds tightly to its target, an abnormally elongated RNA that hijacks part of the normal cellular machinery and brings on symptoms of the disease. The newly developed compound is the first to show high selectivity in binding the target while not disrupting other important RNA functions. The study appears this week in the Proceedings of the National Academy of Sciences.
Myotonic dystrophy type 1, a muscle degeneration disease that so far is untreatable, affects about one in 8,000 people worldwide. Some cases are mild, but others lead to a debilitating loss of muscle control, declines in organ function and other potentially life-threatening conditions.
Scientists have recently identified a primary causative agent of the disease, a mutant version of a gene, called DMPK, which contains an excessive number of tri-nucleotide repeats. Nucleotides are the chemical letters that spell out the sequence of a gene, and the normal version of the DMPK gene includes five to 34 cytosine-thymine-guanine (CTG) repeats. The mutant version of the gene includes 50 to as many as 10,000 CTG repeats.
"The longer the repeat the worse the disease and the earlier the onset of the disease," said U. of I. chemistry professor and department head Steven Zimmerman, who co-led the research with his colleague, chemistry professor Anne Baranger.
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More News on: Otitis Media, Myotonic Dystrophy
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seanclancy(Guest)
10/10/2011
2009? Seriously, it's 2011 now - where is this technology and when can it be available? I'm an award winning guitarist diagnosed with MD 1 2 years ago. I can still play an electric guitar pretty good - but I can't play accoustic guitar anymore. I have 8000 million views on youtube from a video which was recorded when my symptoms were there but not affecting me as much. Cheers, Sean Clancy
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