Dejerine-Sottas

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Schoolboy with Dejerine-Sottas wins international horse riding competition

April 30, 2010

Michael Murphy

Michael Murphy, who has Dejerine-Sottas, win an international horse riding competition


By Suruchi Sharma

A young horse rider at an Elstree riding school is celebrating his win as junior champion at an international tournament in Belgium.

Michael Murphy, 13, from Mill Hill, went to Moorsele, in Belgium, two weeks ago with his trainer Sarah Healing and his mother Sue Murphy.

Michael has trained at Penniwell’s Riding Centre for the Disabled, in Edgwarebury Lane, since he was five years old.

He was selected to ride for Great Britain in the under 21’s International Para competition with his horse Vinnie.

Michael has Dejerine-Sottas disorder, which affects the nervous system. He attends the centre every week instead of doing physical education lessons at his school in Mill Hill.

He said: “The GB team was really very supportive and competing was a lot of fun. It was a really good feeling to be there. More people should definitely get involved with horse riding. I really enjoy it and it has helped me a lot.

“The staff and volunteers at the centre have been great and helped me develop as a rider.”

Ms Healing said: “It has been fantastic and it’s a great achievement for Michael. He is a dedicated rider and who knows we could be seeing him in the future as an Olympic athlete.

“If he carries on the way he is going we might see him not the next Olympics but the one after.

“It’s would be great to work towards that.”

Michael’s mother, Sue, said: “It was a huge arena and there was an amazing atmosphere. I am really proud of Michael and what he has achieved.

“Coming to the centre has really helped him out and also it’s allowed him such opportunity. I want to thank the staff here for their help and continuing support.

The centre is also looking for volunteers for their Sunday service. Some experience with horses is preferred but not essential as all volunteers receive full training.

Sunday hours are 9am-1.30pm but the centre welcomes volunteers for a minimum of two hours also.

Anyone interested in volunteering at the centre can contact Penniwells RDA Centre on penniwells.rda@btconnect.com or 0208 207 4525.

For more information log on to www.penniwellsrda.org.uk

Genetic Factors Clinical Study

April 28, 2010

Researchers at the University of Miami are investigating genetic factors that contribute to Charcot Marie Tooth disease.  Any individual with a diagnosis of CMT and his/her selected family members can participate.  Participation involves providing a small blood sample, a family history interview, and a release of medical records related to CMT.  Travel is not required.
Contact Susan Hahn at 877-686-6444, or email HIHGinfo@med.miami.edu.

NT3 Gene Therapy for CMT1A Benefits Mice

April 25, 2010

From MDA’s Quest magazine:

Mice with a disorder resembling type 1A Charcot-Marie-Tooth (CMT1A) disease that received a single intramuscular injection of genes for the protein neurotrophin 3 (NT3) showed improvements in grip strength, ability to stay on a rotating rod, and strength of nerve signals, investigators reported April 15, at the 2010 meeting of the American Academy of Neurology, held in Toronto.

Earlier studies had tested subcutaneous (under the skin) injections of the NT3 protein, in both mice and humans, and found hints of effectiveness. However, the current study shows that muscle tissue can provide a reservoir for the NT3 genes and secrete the NT3 protein, providing a more durable treatment, the researchers said.

Zarife Sahenk, a professor of pediatrics, neurology and pathology at Ohio State University in Columbus, presented the findings, saying the promising results offer potential for gene therapy for CMT1A — and possibly for other CMT forms, of which there are about 30.

About the new findings

Mice with a mutation in the PMP22 gene, the same gene involved in human CMT1A, received a single injection into an upper leg muscle of NT3 genes encased in type 1 adeno-associated viral delivery vehicles (AAV1 vectors). The experiments were conducted in the Gene Therapy Center at Nationwide Children’s Hospital in Columbus.

NT3 is a naturally occuring protein that promotes nerve growth and survival.

Twenty weeks after the injection, the investigators found the mice that received the treatment had stronger signals from the sciatic nerve to the leg muscles, larger lower-leg muscle fibers, better grip strength in their back legs and better ability to stay on a rotating rod than did mice in the untreated (control) group.

Forty weeks after the treatment, the increases in nerve signals and performance on the rotating rod were even greater.

Meaning for people with CMT1A

The study means that NT3 gene therapy in general, and intramuscular delivery of the therapy in particular, has some potential for treating people with CMT1A and possibly other types of CMT, because NT3 is thought to be good for nerve fibers in general.

Before anyone gets excited, I should point out that
1) Last I heard, NT3 was considered toxic.  (I don’t know what quantity is considered safe.)
2) A lot of things cure those darn little mice that don’t work in humans.  (See all the times spinal cord injuries have been repaired in mice.)
3) It’s my understanding that reinnervation without the appropriate receptors in the muscles causes pain.
4) This hasn’t been tested on people with varying and diverse phenotypes as the Dejerine-Sottas community yet, so it’s impossible to predict how this will work on each variation.
5) This will not fix the underlying genetic variations, so any new nerves grown this way will eventually become demyelinated again.

Having said that, it’s encouraging to see positive results that may become a treatment someday!

Rebecca Ionasescu, 86 Victor Ionasescu, 83

April 11, 2010

Rebecca and Victor IonasescuDrs. Rebecca and Victor Ionasescu, researchers into muscular dystrophy and Charcot-Marie-Tooth, have passed away after a long life with each other.

Dr. Rebecca (Gabi) Ionasescu, who specialized in internal medicine and conducted research in immunology back in Romania, joined Victor in the 1970s in his neuromuscular laboratory doing tissue cultures in Duchenne muscular dystrophy. Gabi became an expert at tissue cultures of muscle cells and studied media formulation in the lab of Dr. Richard Ham, who developed many of the serum-free media formulations used by labs today. Gabi then went on to learn the special techniques required for research in a type of genetic nerve disease called Charcot-Marie-Tooth neuropathy. In 1982, Victor and Gabi began their work with Charcot-Marie-Tooth neuropathy and spent 15 years searching for the genes that cause the debilitating disease. Victor along with his wife spent a sabbatical year at Oxford University in the lab of Dr. Kay Davies learning the specialized recombinant DNA techniques, which allowed them to carry out this research. Victor had one of the largest databases of patients afflicted with this disease in U.S, which was the foundation of his genetics lab.

Full text of the obituary inside.

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