Novel discovery may pave way for new muscular dystrophy therapies

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Washington, July 17 (ANI): Scientists from University of Rochester Medical Centre have discovered a novel way to block the genetic flaw key in development of muscular dystrophy.

They hope that the new discovery could pave the way for new therapies that essentially reverse the symptoms of the disease.

During the study, the researchers used a synthetic molecule to break up deposits of toxic genetic material and re-establish the cellular activity that is disrupted by the disease.

Because scientists believe that potentially all of the symptoms of myotonic dystrophy - the most common form of muscular dystrophy in adults - flow from this single genetic flaw, neutralizing it could potentially restore muscle function in people with the disease.

"This study establishes a proof of concept that could be followed to develop a successful treatment for myotonic dystrophy," said neurologist Dr Charles Thornton, the senior author of the study and co-director of the University of Rochester Medical Centre's Wellstone Muscular Dystrophy Cooperative Research Centre.

Myotonic dystrophy is a degenerative disease characterized by progressive muscle wasting and weakness.

Previous studied made it apparent that a central player in myotonic dystrophy was RNA, a versatile molecule that is very similar to DNA.

The genetic defect in the disease led to production of a toxic RNA, which grabs onto and holds hostage certain proteins, preventing them from carrying out their normal functions

The Rochester team used a synthetic molecule - called an antisense morpholino oligonucleotide - that mimics a segment of the genetic code.

The morpholino was specifically designed to bind to the toxic RNA and neutralize its harmful effects by releasing the captured proteins.

When injected into the muscle cells of mice with myotonic dystrophy, the molecule found its way to the cell nucleus, broke up the deposits of toxic RNA, freed the captive muscleblind proteins, and ultimately improved the function of the muscle cells.

"Based on our current understanding we would predict that by releasing the proteins held hostage, many of the symptoms of the disease may potentially be corrected by this approach," said Dr URMC neurologist Thurman Wheeler, co-author of the study.

The study appears in journal Science. (ANI)

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