Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Australian team reveals world-first discovery in a 'floppy baby' syndrome

27.05.2009
In a world first, West Australian scientists have cured mice of a devastating muscle disease that causes a Floppy Baby Syndrome – a breakthrough that could ultimately help thousands of families across the globe.

The research, published online today in the Journal of Cell Biology, reveals how a team at the Western Australian Institute for Medical Research (WAIMR) has restored muscle function in mice with one type of Floppy Baby Syndrome – a congenital myopathy disorder that causes babies to be born without the ability to properly use their muscles.

The currently incurable genetic diseases render most of the affected children severely paralysed and take the lives of the majority of these children before the age of one.

Dr Kristen Nowak, lead author on the publication, said the team was extremely encouraged that it had been able to cure a group of mice born with the condition.

"The mice with Floppy Baby Syndrome were only expected to live for about nine days, but we managed to cure them so they were born with normal muscle function, allowing them to live naturally and very actively into old age," she said.

"This is an important step towards one day hopefully being able to better the lives of human patients – mice who were cured of the disease lived more than two years, which is very old age for a mouse."

Dr Nowak said the team was able to cure the mice with the recessive form of the genetic condition by replacing missing skeletal muscle actin – a protein integral in allowing muscles to contract – with similar actin found in the heart.

"Earlier in our search to tackle these diseases, we discovered a number of children who, despite having no skeletal muscle actin in their skeletal muscle due to their genetic mutation, were not totally paralysed at birth," she said.

"On closer inspection, we found it was because heart actin – another form of the protein – was abnormally "switched on" in their skeletal muscles.

"We had already begun investigating whether we could use heart actin to treat skeletal muscle actin disease, so that discovery spurred us on, and we've now proved it can be done – we can use heart actin to overcome the absence of skeletal muscle actin in mice."

Heart actin is found in cardiac muscle and, during foetal development, it also works in skeletal muscles in the body, but by birth, heart actin has almost completely disappeared within skeletal muscle.

Using genetic techniques, the WAIMR research team has reactivated the heart actin after birth in place of skeletal muscle actin, reversing the effects of the congenital myopathy.

Head of the WAIMR research group Professor Nigel Laing said the team's next step was to apply their findings to human patients.

"We are now screening more than a thousand already-approved medications looking for one that might increase heart actin in skeletal muscles, which could potentially offer a treatment for many patients," he said.

"Current therapies only target the effects of these conditions, not the condition itself – we hope our approach could lead to a much greater improvement for a range of muscle diseases."

This discovery is the latest for the team which has been investigating debilitating muscle diseases for more than 20 years.

The first major breakthrough for actin disease was in 1999, when the team identified that defects in the skeletal muscle actin gene, ACTA1 – responsible for producing skeletal muscle actin, cause multiple muscle diseases.

Since then, the team has classified and named a new muscle disease 'Laing Myopathy' – named after Professor Nigel Laing – and helped implement world-wide screening for families at risk of genetic muscle disease.

WAIMR Director Professor Peter Klinken said he was thrilled WAIMR was playing such an integral part in helping tackle devastating muscle diseases.

"The persistence and determination shown by Professor Laing and his team over many, many years is nothing short of inspiring," he said.

"They've asked some big questions in their quest to find a cure for this Floppy Baby Syndrome and have worked tirelessly to find the answers to those questions in the hope of helping families across the world.

"Research institutes like ours exist to help people live healthier lives and I am delighted at the important discoveries we are making in this field."

This research has been funded by the National Health and Medical Research Council, WAIMR and a number of patient support groups including the Association Française contre les Myopathies (French Muscular Dystrophy Association) and the US Muscular Dystrophy Association.

The research project centred at the WAIMR laboratory was a collaborative effort with groups at the Medical Research Council and the University of Oxford in the United Kingdom, Cincinnati Children's Hospital Medical Center as well as the Centre for Microscopy, Characterisation and Analysis at the University of Western Australia and Perth-based Proteomics International which have also assisted the team's work.

Floppy Baby Syndrome

The skeletal muscle actin mutations which cause congenital myopathies can be classified into five individual diseases which affect thousands of families worldwide. Children with recessive muscle actin diseases have no skeletal muscle actin because of mutations in the skeletal muscle actin gene which "knock out" the gene function. In Australia, dozens of families are affected by congenital myopathies which bring high emotional costs and personal suffering, as well as financial and community burdens.

MEDIA CONTACTS
Australia: Natalie Papadopoulos, m: 0407 984 435 e: natalie@capturemedia.com.au
Sarah Hayward, m: 0411 404 415 e: sarah@capturemedia.com.au
UK: Professor Dame Kay Davies, University of Oxford, ph: 01865 285880/272430 M: 0797 097 4911 e: kay.davies@dpag.ox.ac.uk

Natalie Papadopoulos | EurekAlert!
Further information:
http://www.researchaustralia.org

More articles from Life Sciences:

nachricht Research team creates new possibilities for medicine and materials sciences
22.01.2018 | Humboldt-Universität zu Berlin

nachricht Saarland University bioinformaticians compute gene sequences inherited from each parent
22.01.2018 | Universität des Saarlandes

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Artificial agent designs quantum experiments

On the way to an intelligent laboratory, physicists from Innsbruck and Vienna present an artificial agent that autonomously designs quantum experiments. In initial experiments, the system has independently (re)discovered experimental techniques that are nowadays standard in modern quantum optical laboratories. This shows how machines could play a more creative role in research in the future.

We carry smartphones in our pockets, the streets are dotted with semi-autonomous cars, but in the research laboratory experiments are still being designed by...

Im Focus: Scientists decipher key principle behind reaction of metalloenzymes

So-called pre-distorted states accelerate photochemical reactions too

What enables electrons to be transferred swiftly, for example during photosynthesis? An interdisciplinary team of researchers has worked out the details of how...

Im Focus: The first precise measurement of a single molecule's effective charge

For the first time, scientists have precisely measured the effective electrical charge of a single molecule in solution. This fundamental insight of an SNSF Professor could also pave the way for future medical diagnostics.

Electrical charge is one of the key properties that allows molecules to interact. Life itself depends on this phenomenon: many biological processes involve...

Im Focus: Paradigm shift in Paris: Encouraging an holistic view of laser machining

At the JEC World Composite Show in Paris in March 2018, the Fraunhofer Institute for Laser Technology ILT will be focusing on the latest trends and innovations in laser machining of composites. Among other things, researchers at the booth shared with the Aachen Center for Integrative Lightweight Production (AZL) will demonstrate how lasers can be used for joining, structuring, cutting and drilling composite materials.

No other industry has attracted as much public attention to composite materials as the automotive industry, which along with the aerospace industry is a driver...

Im Focus: Room-temperature multiferroic thin films and their properties

Scientists at Tokyo Institute of Technology (Tokyo Tech) and Tohoku University have developed high-quality GFO epitaxial films and systematically investigated their ferroelectric and ferromagnetic properties. They also demonstrated the room-temperature magnetocapacitance effects of these GFO thin films.

Multiferroic materials show magnetically driven ferroelectricity. They are attracting increasing attention because of their fascinating properties such as...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

10th International Symposium: “Advanced Battery Power – Kraftwerk Batterie” Münster, 10-11 April 2018

08.01.2018 | Event News

See, understand and experience the work of the future

11.12.2017 | Event News

Innovative strategies to tackle parasitic worms

08.12.2017 | Event News

 
Latest News

Thanks for the memory: NIST takes a deep look at memristors

22.01.2018 | Materials Sciences

Radioactivity from oil and gas wastewater persists in Pennsylvania stream sediments

22.01.2018 | Earth Sciences

Saarland University bioinformaticians compute gene sequences inherited from each parent

22.01.2018 | Life Sciences

VideoLinks Wissenschaft & Forschung
Overview of more VideoLinks >>>