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Key finding in rare muscle disease
January 18, 2007The finding is in the current issue of Annals of Neurology, a leading international neurology journal, in work led by Professor Nigel Laing and Dr Kristen Nowak of the Laboratory for Molecular Genetics at the Western Australian Institute for Medical Research (WAIMR) and done in collaboration with a number of European researchers.
Professor Laing said his team had discovered a number of children across Europe who, despite a complete absence of the crucial skeletal muscle protein actin, were not totally paralysed at birth, and managed to have some muscle movements.
"This intriguing finding led us to look deeper and what we saw is that while these children do not have any skeletal actin in their skeletal muscle, they have another form of the protein, known as heart actin, in their skeletal muscles," said Professor Laing.
"It appears the more heart actin they have in their skeletal muscles, the more movement they have."
Professor Laing said the finding was providing much excitement.
"Before we are born, we all have both skeletal muscle and heart actin in our skeletal muscles, but around the time of birth, we switch off the heart actin - and right now, it's a mystery why this happens," he said.
"We have long believed that if we could find out how to switch the heart actin back on in the skeletal muscle we could use this to create new treatments for these devastating muscle diseases.
"What's remarkable is that these children's bodies have performed this 'switching on' process naturally, presumably to help counteract their condition, and if we can tap into the science of how they've managed to do that, we could perhaps use that information to help other affected children."
BACKGROUND
Children with these muscle diseases have no skeletal actin because of recessive mutations in the skeletal actin gene which "knock out\\\
Research Australia
"It appears the more heart actin they have in their skeletal muscles, the more movement they have."
Professor Laing said the finding was providing much excitement.
"Before we are born, we all have both skeletal muscle and heart actin in our skeletal muscles, but around the time of birth, we switch off the heart actin - and right now, it's a mystery why this happens," he said.
"We have long believed that if we could find out how to switch the heart actin back on in the skeletal muscle we could use this to create new treatments for these devastating muscle diseases.
"What's remarkable is that these children's bodies have performed this 'switching on' process naturally, presumably to help counteract their condition, and if we can tap into the science of how they've managed to do that, we could perhaps use that information to help other affected children."
BACKGROUND
Children with these muscle diseases have no skeletal actin because of recessive mutations in the skeletal actin gene which "knock out\\\
Research Australia
Skeletal Muscle Current Events and Skeletal Muscle News RSSTreatment to improve degenerating muscle gains strength
A study appearing in Science Translational Medicine puts scientists one step closer to clinical trials to test a gene delivery strategy to improve muscle mass and function in patients with certain degenerative muscle disorders.
High-fat diet impairs muscle health before impacting function
Skeletal muscle plays a critical role in regulating blood sugar levels in the body. But few studies have comprehensively examined how obesity caused by a high-fat diet affects the health of muscle in adolescents who are pre-diabetic.
Scientists discover new genetic variation that contributes to diabetes
Scientists have identified a genetic variation in people with type 2 diabetes that affects how the body's muscle cells respond to the hormone insulin, in a new study published today in Nature Genetics. The researchers, from Imperial College London and other international institutions, say the findings highlight a new target for scientists developing treatments for diabetes.
Carnitine supplements reverse glucose intolerance in animals
Supplementing obese rats with the nutrient carnitine helps the animals to clear the extra sugar in their blood, something they had trouble doing on their own, researchers at Duke University Medical Center report.
Mutation responsible for cystic fibrosis also involved in muscle atrophy
Patients with cystic fibrosis (CF) usually experience significant muscle loss, a symptom traditionally considered to be a secondary complication of the devastating genetic disease.
Injection reverses heart-attack damage
Injured heart tissue normally can't regrow, but researchers at Children's Hospital Boston have now laid the groundwork for regenerating heart tissue after a heart attack, in patients with heart failure, or in children with congenital heart defects.
Researchers make progress toward early identification of muscular dystrophy
The saying "Knowing is half the battle" is never more true than when discussing early treatment of disease. Muscular dystrophy is one such disease where patients can benefit from early treatment. Now, new research is moving doctors and scientists closer to disease diagnosis in advance of patient symptoms.
Muscle atrophy through thick but not thin
During desperate times, such as fasting, or muscle wasting that afflicts cancer or AIDS patients, the body cannibalizes itself, atrophying and breaking down skeletal muscle proteins to liberate amino acids.
Study further expands understanding of leptin's role in brain neurocircuitry
In investigating the complex neurocircuitry behind weight gain and glucose control, scientists have known that the hormone leptin plays a key role in the process.
Adult Bone Marrow Stem Cells Injected into Skeletal Muscle Can Repair Heart Tissue
University at Buffalo researchers have demonstrated for the first time that injecting adult bone marrow stem cells into skeletal muscle can repair cardiac tissue, reversing heart failure.
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