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Thursday, October 20, 2016
Scientists Identified a Vitamin That Could Halt the Progress of Duchenne Muscular Dystrophy.
Duchenne muscular dystrophy is a common form of muscular dystrophy that affects one out of every 3,500 children. Children with this disease end up in a wheelchair by the age of 12.
Duchenne muscular dystrophy caused by a genetic mutation that disables the production of dystrophin, a protein required to keep muscles intact. The deformed cells mechanically causes inflammation that gradually destroy muscles, this leads to progressive general paralysis, and eventually death, due to respiratory failure.
When dealing with a disease born of a genetic defect the solution often lies in fixing the problematic gene, but the case of Duchenne muscular dystrophy has proved to be an exception. A study published in the science Translational Medicine, a team led by Johan Auwerx discovered that a vitamin called nicotinamide riboside is highly effective in large doses for halting the progress of the disease in animals.
Auwerx and his team focused on the second cycle in the progression of Duchenne, where initial inflammation causes a certain gene to consume large amounts of NAD+ — an essential component serving as fuel for the mitochondria. NAD+ shortage in mitochondria weakens muscles and aggravate inflammation that further destroys muscles.
The researchers prevented this second cycle from occurring by sustaining the mitochondria through nicotinamide riboside, the vitamin precursor of NAD+. The approach was tested on C. elegans worms and on mice genetically modified to have the disease.
The result showed that administering large doses of the vitamin, the worms did not have any of the symptoms of Duchenne’s second cycle. The mice, while demonstrating muscular inflammation at lower levels, showed reduced effects of muscular damage. This clearly shows that preventing the second cycle by giving large doses of nicotinamide riboside hold the key to treatment of Duchenne muscular dystrophy. More
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