Research
Research Updates September-October 2007
Diseased featured in this article include: Duchenne muscular dystrophy, Friedreich's ataxia and myotonic musuclar dystrophy.MDA-supported researchers at the University of Pennsylvania and the University of Ottawa report finding a molecule that keeps the muscle protein known as utrophin confined to one small area of a muscle fiber and thereby limits its potential as a therapy for Duchenne muscular dystrophy (DMD). Releasing this brake by blocking this molecule could become a strategy for treating the disease.
Read MoreTruth, Lies and Tracheostomies
When neuromuscular disease weakens the muscles used for breathing, many people benefit greatly from noninvasive ventilation (NIV), which can add years of breathing support.But when a tracheostomy and ventilator are suggested for better breathing, some people see NIV as “enough” and a trach and vent as somehow “too much.”
Read MoreWhat Does Blocking Myostatin Do?
Blocking the protein known as myostatin, which limits muscle growth, has been under intense investigation as a strategy for the muscular dystrophies since 2002, when scientists found that mice with Duchenne muscular dystrophy (DMD) that were bred without myostatin were stronger and more muscular than their counterparts with normal myostatin levels.
Read MoreThrough the Looking Glass with FSH Dystrophy Researchers
In 1990, Sara Winokur was a doctoral student in the laboratory of John Wasmuth, a professor of biological chemistry and a prominent researcher in genetics at the University of California at Irvine.It was an exciting time in genetics. The genes that, when mutated (flawed), cause diseases, were rapidly being identified. Among the first, in 1986, had been one for Duchenne muscular dystrophy.
Read MoreScientists Bullish on Stem Cells for Muscle Repair
MDA grantee Giulio Cossu, director of the Stem Cell Research Institute of the San Raffaele Scientific Institute of Milan (Italy), was part of an Italian and French research team that restored mobility to two dogs and stabilized function in a third, using stem cells taken from muscle blood vessels.Maurilio Sampaolesi, at the San Raffaele Scientific Institute in Milan and the Institute of Myology at the University of Pavia (Italy), and colleagues, isolated mesoangioblasts from canine muscle biopsy samples and administered them through an artery into 10 dogs with a disorder resembling human Duchenne muscular dystrophy (DMD).
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Connecting the Dots
Just a few years ago, almost nothing could be said to parents like those in “Families Left with Questions,” other than that their child had a congenital (present at or near birth) form of muscular dystrophy.Andrew Loewi of Denver compares research on his daughter Samantha’s congenital MD (CMD) to Duchenne MD, for which the gene was identified in 1986. “What was so discouraging, so exasperating, for us, was that without even knowing what gene was involved, it seemed we were so far behind the eight ball that we’d never catch up.”
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Secrets of the Salamander: Can Stem Cells Repair Damaged Muscle Fibers?
Long before "stem cell" became a household term, people had observed that plants and animals can, within limits, repair damage they sustain.Wounds heal, broken bones knit, and lost blood is replenished. Mowed grass soon regrows, and barren trees sprout new leaves in spring. Cut off a limb of a salamander or some other amphibians, and it regrows. But the limbs of other animals, once gone, can’t grow back.
Read MorePutting Out the Fire
These days, you can find Giovanna Albers at home with her family in Imperial, Mo., or on the job as a hostess at LongHorn Steakhouse in nearby Sunset Hills, or swimming laps at the YMCA.The trim, attractive, even athletic-looking 38-year-old radiates good health. So it comes as a surprise that her walk demonstrates profound weakness of her hip and thigh muscles, and that she occasionally falls.
Read MoreWhen Neuromuscular Disease Affects the Brain
If you’re the parent of a child with a neuromuscular disease, you’ve probably heard something about learning disabilities, mental retardation or emotional problems that accompany some of the muscular dystrophies and related diseases.But this information is often expressed in vague, general terms, leaving a parent wondering what specifically has gone wrong, whether the child’s school problem is directly related to his neuromuscular disease or not, and — perhaps most important — what can be done to help.
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A Muscle Disease Concealed by a Muscular Physique
Every grade school has at least one: that scrawny kid who's a laughingstock in school sports and a favorite punching bag for bullies.In many ways, Christoph Lossin was that kid, except that he was anything but scrawny. His athletic attempts usually ended in embarrassment, and he was a sure loser in fistfights. But he was also a strapping young man, with bulging muscles in his arms and legs. Unfortunately, when he needed them most, those impressive-looking muscles always seemed to let him down.
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