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Muscular dystrophy: Symptoms, treatment, types, and …

Scientists working with oligonucleotides hope to use a drug to "unzip" the genetic code, and then shift one side of the code to the right by a tiny degree, thereby giving the cell enough code to produce a viable dystrophin protein.Scientists believe that this therapy could, for example, change the reading frame of a deletion in the dystrophin gene, so that an out-of-frame deletion in the dystrophin gene could be transformed into an in-frame deletion.Their hope is that this change would cause the muscle cell to produce a form of dystrophin that is at least partially functional, which could result in a significant improvement in the quality of life for a boy with Duchenne, essentially converting his symptoms to those of the less debilitating Becker muscular dystrophy.There remain, unfortunately, two major drawbacks to oligonucleotide therapy.

Limb-Girdle Muscular Dystrophies

Induced pluripotent stem cells (iPS cells)
can be made in the lab from virtually any cell of the body and are pluripotent – this means they can make any cell of the body. Recently researchers discovered how to turn iPS cells, originally grown from patients’ skin cells, into cells that behave like healthy MABs. When these MAB-like cells were injected into mice with muscular dystrophy the mice gained muscle strength, could exercise for longer and produced normal muscle proteins. This was a very early study and a lot of research is still needed to establish whether this type of treatment would be safe and effective in humans. However, this research does suggest that MAB-like cells grown from iPS cells may be promising as a way to treat different types of muscular dystrophy. Since iPS cells can copy themselves indefinitely, an unlimited number of MAB-like cells could potentially be grown from a patient’s own skin cells and delivered in the bloodstream. These cells would be easier to grow in the lab and might be less likely to be rejected by the patient’s immune system than donor cells.

Creatine Supplement - Unbiased Review on Usage, …

Dystrophin-Glycoprotein Complexes

Since that time, scientists have observed that utrophin could potentially operate as a substitute for dystrophin (and protect the muscle cell membrane), if muscle cells could be coaxed into producing utrophin at locations other than the neuro-muscular junction.This strategy could perhaps lead to an effective treatment for Duchenne, using a biological process substantially simpler than those involved in gene and cell therapies.

Muscular dystrophies are a group of genetic diseases that affect skeletal muscles and often also heart muscle. The symptoms include muscle weakness and progressive muscle wasting. Duchenne muscular dystrophy (DMD) is the most common and a very severe form of the disease. It is caused by a genetic fault which prevents the production of a protein called dystrophin. Without dystrophin, muscles are fragile and are easily damaged. Over time so much damage builds up that the body can’t repair it and muscles waste away, causing progressive disability in patients.

In Vivo Target Gene Activation via CRISPR/Cas9 …

More recently, a larger, double-blind, placebo-controlled clinical trial looked at the effects of six months of supplementation with oral glutamine and creatine on 50 boys with MD. Results were tantalizing but ultimately inconclusive. “Although there was no statistically significant effect of either therapy based on manual and quantitative measurements of muscle strength,” wrote researchers, “a disease-modifying effect of creatine in older Duchenne muscular dystrophy, and creatine and glutamine in younger Duchenne muscular dystrophy cannot be excluded.” Both treatments were well tolerated (Escolar DM et al 2005).

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