Until now focused on evaluation in patients (they developped several tools and evaluation methods of neuromuscular function) Jean-Yves Hogrel and his team recently have extended their area to in vivo evaluations in animals.  
 
How long have you worked on in vivo evaluations in animals?
It is a fairly new area for me. I’ve been doing it for about 3 years. The first requests were from Genethon research groups that carried out many in vitro evaluations at the time and a few evaluations of general motor skills in the mouse. At their request, we have developed a non-invasive evaluation system of the flexion and extension strength in the mouse ankle to monitor animals.
> Access the complete interview





For several years the Institute of Myology has been carrying out evaluations of motor function in humans within the framework of clinical trials. The ULENAP (Upper Limb Assessment in Non Ambulatory Patients) clinical trial to evaluate non-ambulatory patients suffering from neuromuscular diseases began in January. Aurélie Canal, physiotherapist from the center of neurophysiology and muscle evaluation (Director: JY Hogrel) and Laurent Servais, neuropediatrician at the IM, have developed Moviplate, a tool for measuring motor function in these patients.  
 
What is the purpose of this clinical trial?
It is a somewhat unusual trial that has been initiated to validate a tool to evaluate the upper limbs of non-ambulatory patients, regardless of the neuromuscular disease, but mainly Duchenne patients. Here we assess the reliability, feasibility, reproducibility of this test and then its sensitivity in the natural history of this dystrophy; to ultimately be able to assess the effects of therapy on the upper limbs.
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• Arbogast S, Ferreiro A: Selenoproteins and protection against oxidative stress : selenoprotein N as a novel player at the crossroads of redox signalling and calcium homeostasis.
  Antioxid Redox Signal, 2010, 12 (7):893-904
• Boutin S, Monteilhet V, Veron P, Leborgne C, Benveniste O, Montus MF, Masurier C: Prevalence of serum IgG and neutralizing factors against adeno-associated virus types 1, 2, 5, 6, 8 and 9 in the healthy population: implications for gene therapy using AAV vectors.
  Hum Gene Ther. 2010 Jan 22. [Epub ahead of print]
• Durieux AC, Prudhon B, Guicheney P, Bitoun M: Dynamin 2 and human diseases.
  J Mol Med, 2010 Feb 3. [Epub ahead of print]
• Furby A, Behin A, Lefaucheur JP, Beauvais K, Marcorelles P, Mussini JM, Bassez G, Creange A, Eymard B, Penisson-Besnier I: Late-onset cervicoscapular muscle atrophy and weakness after radiotherapy for Hodgkin disease: a case series.
  J Neurol Neurosurg Psychiatry, 2010, 81 (1):101-4
• Knoblauch H, Geier C, Adams S, Budde B, Rudolph A, Zacharias U, Schulz-Menger J, Spuler A, Ben Yaou R, Nurnberg P, Voit T, Bonne G, Spuler S: Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation.
  Ann Neurol, 2010, 67 (1):136-40
• Lommel M, Cirak S, Willer T, Hermann R, Uyanik G, van Bokhoven H, Korner C, Voit T, Baric I, Hehr U, Strahl S: Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies.
  Neurology, 2010, 74 (2):157-64
• Ménard JC, Giacomini E, Baligand C, Fromes Y, Carlier PG: Non-invasive and quantitative evaluation of peripheral vascular resistances in rats by combined NMR measurements of perfusion and blood pressure using ASL and dynamic angiography.
  NMR Biomed. 2010 Feb;23(2):188-95
• Mitchell KJ, Pannerec A, Cadot B, Parlakian A, Besson V, Gomes ER, Marazzi G, Sassoon DA: Identification and characterization of a non-satellite cell muscle resident progenitor during postnatal development.
  Nat Cell Biol, 2010 Mar;12(3):257-66. Epub 2010 Jan 31
• Mouisel E, Vignaud A, Hourde C, Butler-Browne G, Ferry A: Muscle weakness and atrophy are associated with decreased regenerative capacity and changes in mTOR signaling in skeletal muscles of venerable (18-24-month-old) dystrophic mdx mice.
  Muscle Nerve, 2010 Feb 11. [Epub ahead of print]
• Parlakian A, Gomaa I, Solly S, Arandel L, Mahale A, Born G, Marazzi G, Sassoon D: Skeletal muscle phenotypically converts and selectively inhibits metastatic cells in mice.
  PLoS One, 2010, 5 (2):e9299
• Pinto Mariz F, Carvalho LR, De Mello W, De Queiroz Campos Araujo A, Ribeiro MG, Do Carmo Soares Alves Cunha M, Voit  T, Butler Browne G, Dayse Silva Barbosa S: Differential integrin expression by T lymphocytes: potential role in DMD muscle damage. J Neuroimmunol, 2010.
• Romero N: Centronuclear myopathies: A widening concept.
  Neuromusc Disord, 2010 Feb 22. [Epub ahead of print]
• Schmidt M, Demoule A, Cracco C, Gharbi A, Fiamma MN, Straus C, Duguet A, Gottfried SB, Similowski T: Neurally adjusted ventilatory assist increases respiratory variability and complexity in acute respiratory failure.
  Anesthesiology, 2010, 112 (3):670-81
• Trollet C, Anvar SY, Venema A, Hargreaves IP, Foster K, Vignaud A, Ferry A, Negroni E, Hourde C, Baraibar MA, t Hoen PA, Davies JE, Rubinsztein DC, Heales SJ, Mouly V, Raz V, Butler-Browne G, van der Maarel SM, Dickson G: Molecular and phenotypic characterisation of a mouse model of oculopharyngeal muscular dystrophy reveals severe muscular atrophy restricted to fast glycolytic fibres.
  Hum Mol Genet, 2010 Mar 5. [Epub ahead of print]

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.
 

• A study of the prevalence of heart disease in adults with primary mitochondrial respiratory chain disease - Read
• Beneficial effect of deflazacort in two children with LGMD2E - Read
• The histone deacetylase inhibitor SAHA improves the phenotype of SMA in two mouse models - Read
• Duchenne muscular dystrophy: synergistic effect of two therapeutic approaches in the mouse - Read
• New muscle stem cell found in mice - Read
• New insight into the functioning of alpha-dystroglycan: implications for alpha-dystroglycanopathies - Read
• Identification of a novel mutation associated with CMT2 - Read
  

• The George Karpati Symposium on Neuromuscular Diseases - Innovation and Application
  May 10, 2010 - Montreal, Quebec, Canada

• 15th International Congress of WMS
  October 12-16, 2010 - Kumamoto, Japan

• 60th Meeting of the American Society of Human Genetics
  November 2-6, 2010 - Washington, DC, USA

> > Access the complete list of upcoming conferences and meeting.

• Postdoctoral Associate, The Burnham Institute, La Jolla, California

• Postdoctoral Fellowship in Neurogenetics, Columbia University, New York

• Science Research Writing for Non-Native Speakers of English
  by Hilary Glasman-Deal

1. A previously unknown type of muscle stem cell has recently been identified. Where is it located?
a) in the sarcolemma
b) in the connective tissue
c) in the interstitial spaces of muscle fibres
d)  in intramuscular fat
 
2. Why are in vivo evaluations of neuromuscular function a powerful tool?
a) allows to follow the same animal during treatment
b) non-invasive
c) increases the methodological robustness
d) all of the above
 
3. Specific mutations in which gene have been found to cause both Limb Girdle Muscular Dystrophy type 2L (LGMD2L) and Miyoshi Myopathy (MMD3)
a) anoctamin 5
b) dysferlin
c) calpain-3
d) fukutin
 
4. Généthon has initiated a clinical trail for which rare disease?
a) Wissler-Fanconi syndrome
b) Wiskott Aldrich syndrome
c) Aldred syndrome
d) Immune-mediated rippling muscle disease
 
5. When AAVs penetrate cells, their genomes tend to combine with one another in a phenomenon known as:
a) concatemerisation
b) amalgamation
c) dimerization
d) coalescence
 
Answers are here!