Capucine Trollet and Alban Vignaud work in therapeutic characterization in mouse models in OMPD and DM1 and Fernanda Pinto-Mariz in clinical application in humans.

> Read

This mini-review summarizes the morphological data of muscles biopsies from centronuclear myopathy (CNM) patients with and without known genetic defects. After the discovery that mutations in the dynamin-2 (DNM2) gene caused the classical, severe and intermediate forms of autosomal dominant CNM, patients with CNM could be classified in two groups: those with DNM2 mutations and those in whom such mutations were excluded (there were about 50% patients in each group). A triad of morphological abnormalities was consistently and almost exclusively observed in CNM DNM2-mutated patients and consisted in: (a) typical aspects of radiating sarcoplasmic strands, (b) significant nuclear centralization and c) type 1 muscle predominance. Additional structural alterations within muscular fibres could be a useful criterion for suggesting or discarding DNM2-related CNM. Amongst the CNM patients unrelated to DNM2, at least five different subgroups could be identified based on muscle biopsies.

> Read

Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi distal myopathy type are due to mutations in the gene encoding dysferlin DYSF (dysferlinopathies). Gene therapy aiming to replace the defective gene with an intact gene using AAV viral vectors is one of the treatment approaches for these diseases, but the DYSF gene is too large to be contained within AAV vectors.
In this article, a team from Genethon led by Isabelle Richard and supported by the AFM has succeeded in restoring the production of full-length and functional dysferlin in mouse models of dysferlinopathies.

> Read

Spinal Muscular Atrophy (SMA) is a recessive inherited disorder. The genes SMN1 and SMN2, located on chromosome 5, carry instructions for production of the necessary ‘survival of motor neurons’ (SMN) protein that’s deficient in SMA. In this study, research scientists at four U.S. institutions have successfully used gene therapy to treat newborn-SMA affected mice. Three approaches that have already shown success individually, but had not been previously combined, were used.

> Read

Discover our selection of scientific and medical publications in the fields of myology and neuromuscular diseases: a summary of each publication aimed at the general reader, highlighting the main points of the article and the authors’ conclusions is provided.

The French Society of Developmental Biology, in association with its Japanese counterpart (Japanese Society of Developmental Biology), organizes its annual meeting from the 26th to the 28th of May at the Institut Pasteur.
Registration deadline is May 11.

Represented fields: Genectics, Immunology, Neurosciences, Host-Pathogen Interactions, Imaging & Bioinformatics, Physics/Chemistry/Biology Interfaces, Medicine & Physiology, Cell Biology and Developmental Biology.

International Association for Disability in Oral Health

 

€95, 200,117: the total raised by the 2009 23rd Telethon organised on 4-5 December by AFM and France Télévisions, with the support of radio stations from the Radio France group. The scale of this total in difficult economic times bears witness to the general public’s commitment to the concepts of solidarity and pushing one’s own boundaries promoted by AFM. It also represents the concerted efforts of one million donors, 200,000 volunteers and 5 million people taking part in almost 20,000 events, ranging from the most traditional to the outright crazy, in over 10,000 French towns and villages.

The consensus document ‘The Diagnosis and management of Duchenne muscular dystrophy’ was published over two editions of the Lancet Neurology in January and February 2010. The result of a three-year-long project guided by the US Centers for Disease Control (CDC) and with input from 84 leading DMD specialists worldwide, this article is a valuable resource for doctors and therapists involved in DMD care, as well as for individuals with DMD and their families. However, as an academic publication, it is not always written in language accessible to people without a medical background. The Muscular Dystrophy Association, Parent Project Muscular Dystrophy, TREAT-NMD and the United Parent Project Muscular Dystrophy have therefore worked together to produce a comprehensive "guide for families" based closely on the full academic article. The guide can be used on its own or as a supplement to the academic document, and we hope that individuals with Duchenne and their families can use it in collaboration with their care providers to discuss their own specific care needs.The family guide has been produced in various different formats and will be appearing in many different languages in the near future.
> More information can be found on the Treat-NMD website

On March 3, PTC Therapeutics and Genzyme Corporation announced the suspension of the development of ataluren, also called PTC 124. This molecule was expected to promote the restoration of a functional
dystrophin in Duchenne/Becker muscular dystrophy patients with nonsense mutations (or stop codons) of the gene encoding this protein.
But the primary outcome measure, the total distance walked during a 6-minute walk test, was not attained. Even though the first analyses of data are reassuring, they have not demonstrated a statistically measurable efficacy. It was therefore decided to suspend the trial to carryout additional analyses. The treatment appears to be more effective in some patients than others and the reason needs to be understood before going further.
In any case, PTC and Genzyme seem determined to move forward to find a way to formally prove the effectiveness of this molecule. The development of the drug is thus currently suspended while awaiting more detailed analysis of the trial results.

Postdoctoral positions are available to study the molecular basis of myotonic dystrophy, a multi-system neuromuscular disorder. For additional information see http://www.usc.edu/programs/pibbs/site/faculty/reddy_s.htm
Prior experience in biochemistry or signal transduction is preferred.
Send curriculum vitae and names of three references to:
Dr. Sita Reddy,
Institute for Genetic Medicine, Keck School of Medicine, University of
Southern California, 2250 Alcazar Street, CSC-264, Los Angeles, CA 90033.
E-mail: sitaredd(a)usc.edu

A postdoctoral position in gene therapy, regenerative medicine, and protein engineering is available in the Department of Biomedical Engineering at Duke University. The position is associated with an externally funded project focused on engineering synthetic enzymes for the genetic correction of hereditary diseases, with a particular focus on Duchenne Muscular Dystrophy. This interdisciplinary project includes opportunities for collaboration with investigators in Engineering, Surgery, Pediatrics, and Medical Genetics at Duke and Pharmacy at UNC-Chapel Hill. This project also includes training in innovative technologies that can serve as a foundation for future research projects in diverse areas of medicine and basic science.

In the second edition of this book, Kathy Barker has substantially revised the text, offering PIs advice on adapting to the changes and challenges that the years have brought. New topics include collaboration contracts, performance evaluations, communicating with non-scientists, tips for succeeding on the tenure track, and professional development. With this book as a guide, any new or aspiring PI will be well-equipped to manage personnel, time, and institutional responsibilities with confidence.

1. What type of analysis did the authors use in a recent paper to gain insight into molecular mechanisms involved in OPMD?
a) proteomic analysis
b) genomic analysis
c) PCR analysis
d) transcriptomic analysis

 

2. VLA-4 and/or VLA-5 interact with which of the following extracellular matrix proteins, possibly contributing to T-cell mediated tissue damage?
a) undulin
b) fibronectin
c) tenascin
d) laminin

 

3. Intramuscular injections of a dual-adeno-associated vector into a dysferlin-deficient mouse model led to a widespread expression of the full-length protein.
True
False

 

4) In a recent Nature Biotechnology publication, the spinal muscular atrophy phenotype in a mouse model of SMA was rescued using gene therapy. How many days after injection was AAV9 observed in the spinal cord motor neurons?
a) 5 days
b) 21 days
c) 15 days
d) 10 days

 

5) The drafting of the family guidelines ‘The Diagnosis and management of Duchenne muscular dystrophy’ was led by:
a) the Centers for Disease Control (CDC)
b) The Muscular Dystrophy Association
c) the United Parent Project Muscular Dystrophy
d) TREAT-NMD