VDO of Developing Treatment for Hereditary Neuromuscular Disease
Developing Treatment for Hereditary Neuromuscular Disease Tube. Duration : 70.02 Mins.We had a good read. For the benefit of yourself. Be sure to read to the end. I want you to get good knowledge from Central Florida Spine Institute. Air date: Wednesday, November 02, 2011, 3:00:00 PM Timedisplayed is Eastern Time, Washington DC Local Category: Wednesday Afternoon Lectures Description: Several thousand human disease genes have been identified over the past 25 years. The challenge now is to convert what we know about the causes and mechanisms of hereditary diseases into safe and effective treatment. We are finally close to doing this for two pediatric neuromuscular diseases, Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA). DMD is characterized by progressive weakness due to muscle degeneration. The disease is caused by mutations in the muscle protein dystrophin. Most of the mutations are partial gene deletions that shift the translational reading frame of the mRNA, leading to a truncated and unstable protein. Approaches to treatment include enhancing muscle regeneration and replacing or correcting the gene at the DNA or mRNA level. Myostatin inhibition and drugs that promote read-through of mutations have shown benefit in animals but not yet in clinical trials. Gene replacement has low efficiency and may induce an immune response to dystrophin. Oligonucleotide therapy to induce exon skipping may be the most promising approach at present. The oligonucleotides target specific mutations at the mRNA level. Recent clinical studies have shown partial restoration of muscle dystrophin with local and systemic delivery, and international trials are in progress. SMA is the most common severe ...
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