Newsletter :: Institut de Myologie |
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 | Monthly Newsletter - February 2010
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 Edito  ON Sunday February 28th it is Rare Disease Day. Rare Disease Day is an international event aimed at raising awareness of rare diseases and to ensure that rare diseases are considered a public health priority. In an interview, Stéphane Roques, Secretary General of the Institute of Myology, discusses Rare Disease Day and the involvement of the Institute in the field of rare diseases in France. The theme for this year's Rare Disease Day is “Patients and Researchers: Partners for Life”. Consult the Rare Disease Day website for more information: http://www.rarediseaseday.org/ IN our second interview, David Sassoon, Director of the U787-Myology Group (INSERM-UPMC-AIM) at the Institute of Myology tells us about their latest findings; a new population of muscle resident interstitial cells with characteristics of true stem cells. This exciting discovery holds great promise for the future of cell therapy. DON'T forget to see how well you did in last month’s ‘Test your knowledge”, the answers can be found here. FINALLY, we are delighted to announce that our Newsletter will now be available on a monthly basis in english and in french. Enjoy! RNC |
Focus on the 3rd Rare Disease Day
On the occasion of the 3rd Rare Disease Day, Stéphane Roques, Secretary General of the Institute of Myology, discusses the involvement of the Institute in research, teaching and management of these rare diseases that include neuromuscular diseases.
Why Rare Disease Day?
Rare Disease Day has four goals, foremost, to educate the public but also rare disease policymakers and to strengthen their status as a public health priority. It also serves to make the voice of patients more audible. Moreover, it provides hope and information to patients with rare diseases, especially those who do not have a support network. Finally, it strengthens the international collaboration in the fight against rare diseases.
Rare Disease Day has four goals, foremost, to educate the public but also rare disease policymakers and to strengthen their status as a public health priority. It also serves to make the voice of patients more audible. Moreover, it provides hope and information to patients with rare diseases, especially those who do not have a support network. Finally, it strengthens the international collaboration in the fight against rare diseases.
Interview with David Sassoon : A new population of muscle resident interstitial cells
David Sassoon is the Director of the U787-Myology Group (INSERM-UPMC-Association Institut de Myologie) at the Institute of Myology. His research focuses on stem cell regulators. In March he will publish an article on a new population of muscle resident interstitial cells that have very promising properties for cell therapy. Two teams from the group led the research: one directed by Giovanna Marazzi & David Sassoon, the other by Edgar Gomes.
How did you discover PICs?
Immunofluorescence staining was used to label the transcription factor, Pax7 and regulatory factor, PW1 on muscle sections. We were thus able to identify a novel small subpopulation of interstitial cells (PW1+/ Pax7-) that we called PICs (for PW1 + Insterstitial Cells) that are distinct from satellite cells (SAT) (PW1+/ Pax7+). On a muscle section, we observe as many PICs SAT cells.
Immunofluorescence staining was used to label the transcription factor, Pax7 and regulatory factor, PW1 on muscle sections. We were thus able to identify a novel small subpopulation of interstitial cells (PW1+/ Pax7-) that we called PICs (for PW1 + Insterstitial Cells) that are distinct from satellite cells (SAT) (PW1+/ Pax7+). On a muscle section, we observe as many PICs SAT cells.
Institute recent publications
- Claeys KG, Maisonobe T, Bohm J, Laporte J, Hezode M, Romero NB, Brochier G, Bitoun M, Carlier RY, Stojkovic T: Phenotype of a patient with recessive centronuclear myopathy and a novel bin1 mutation. Neurology, 2010, 74 (6):519-521
- Drouet T, Behin A, Psimaras D, Choquet S, Guillevin R, Hoang Xuan K: Syndrome de Bing-Neel révélateur d'une maladie de Waldenstrom : étude d'un cas et revue de la littérature. Rev Neurol (Paris), 2010, 166 (1):66-75
- Durieux AC, Prudhon B, Guicheney P, Bitoun M: Dynamin 2 and human diseases. J Mol Med. 2010 Feb 3. [Epub ahead of print]
- Dumonceaux J, Marie S, Beley C, Trollet C, Vignaud A, Ferry A, Butler-Browne G, Garcia L:
Combination of Myostatin Pathway Interference and Dystrophin Rescue Enhances Tetanic and Specific Force in Dystrophic mdx Mice. Mol Ther. 2010 Jan 26. [Epub ahead of print] - Laforet P, Doppler V, Caillaud C, Laloui K, Claeys KG, Richard P, Ferreiro A, Eymard B: Rigid spine syndrome revealing late-onset Pompe disease. Neuromuscul Disord, 2010 Feb;20(2):128-130. Epub 2009 Dec 14
- Mearini G, Gedicke C, Schlossarek S, Witt CC, Kramer E, Cao P, Gomes MD, Lecker SH, Labeit S, Willis MS, Eschenhagen T, Carrier L: Atrogin-1 and MuRF1 regulate cardiac MyBP-C levels via different mechanisms. Cardiovasc Res, 2010 Jan 15;85(2):357-66. Epub 2009 Oct 22
- Mitchell KJ, Pannérec 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 Jan 31. [Epub ahead of print] - Pietri-Rouxel F, Gentil C, Vassilopoulos S, Baas D, Mouisel E, Ferry A, Vignaud A, Hourde C, Marty I, Schaeffer L, Voit T, Garcia L: DHPR alpha1S subunit controls skeletal muscle mass and morphogenesis. EMBO J, 2010 Feb 3;29(3):643-54. Epub 2009 Dec 24
- Randles KN, Lam LT, Sewry CA, Puckelwartz M, Furling D, Wehnert M, McNally EM, Morris GE: Nesprins, but not sun proteins, switch isoforms at the nuclear envelope during muscle development. Dev Dyn, 2010, 239 (3):998-1009
- Wein N, Avril A, Bartoli M, Beley C, Chaouch S, Laforet P, Behin A, Butler-Browne G, Mouly V, Krahn M, Garcia L, Levy N: Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping. Hum Mutat, 2010 Feb;31(2):136-42
Discovery of a new gene causing a type of periodic paralysis
Thyrotoxic hypokalemic periodic paralysis (TPP) is a rare complication of hyperthyroidism characterized by episodes of muscle weakness and hypokalemia.
A new gene, KCNJ18, was found to be responsible for forming a newly recognized potassium channel, an inwardly rectifying potassium channel, Kir2.6. Furthermore, its activity is increased by thyroid hormone. Six mutations in KCNJ18 were identified and shown to cause some cases of TPP.
A new gene, KCNJ18, was found to be responsible for forming a newly recognized potassium channel, an inwardly rectifying potassium channel, Kir2.6. Furthermore, its activity is increased by thyroid hormone. Six mutations in KCNJ18 were identified and shown to cause some cases of TPP.
Elevated CUGBP1 plays a major role in DM1 cardiac pathogenesis
Myotonic Dystrophy (DM) is a multisystemic disorder and the second most common form of muscular dystrophy. Major features of the disease include myotonia, muscle wasting, insulin resistance, cardiac conduction defects, cataracts, cognitive dysfunction and mental retardation in the most severe congenital form of the disease.
In this study, researchers aimed to determine whether CUGBP1 overexpression in cardiac tissue is sufficient to reproduce the cardiac phenotype of DM1.
Latest research highlights
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.
- Positive preliminary results from systemic treatment with AVI-4658 - Read
- A new form of autosomal-dominant limb-girdle muscular dystrophy, LGMD1H - Read
- Fibro/adipogenic progenitors for muscular dystrophy and fibrosis - Read
- New insight into the functioning of alpha-dystroglycan: implications for alpha-dystroglycanopathies - Read
- Identification of a novel mutation associated with Charcot-Marie-Tooth disease type 2 - Read
- Loss of normal PABPN1 functions is central to OPMD - Read
- American Academy of Neurology - Annual Meeting 2010
10-17 April 2010 - Toronto, Canada
March 10, 2010: annual meeting early registration and housing deadline
- International symposium on Stem Cells in Biology and Disease
26-28 May 2010 - Lisbon, Portugal
March 22, 2010: Poster abstract submission deadline (notification 12 April 2010)
March 22, 2010: Travel fellowship application deadline
April 5, 2010: Registration deadline
> Further details
March 22, 2010: Travel fellowship application deadline
April 5, 2010: Registration deadline
> Further details
- 9th Annual Meeting of the "French Society of Cell and Gene Therapy"
June 13-15, 2010 - Paris, France
March 1, 2010 : Abstract submission deadline
June 1, 2010: Registration deadline
> > Access the complete list of upcoming conferences and meeting.
June 1, 2010: Registration deadline
New Centre for Neuromuscular Diseases opens in Zurich
A new Centre for Neuromuscular Diseases was opened in Zürich, Switzerland in October 2009. It represents the main contact point for patients with neuromuscular diseases in Switzerland and merges the competence and expertise of the University Hospital with the Children’s Hospital in Zürich. The Neuromuscular Centre is built on interdisciplinary cooperation to ensure an integral therapeutic approach: patients can profit from the medical know-how of the Institutes of Neurology, Pneumology, Rheumatology, Cardiology, Orthopaedics and Gastroenterology, have easy access to Physiotherapy, Occupational Therapy and Speech Therapy, and have guidance and advice for psychological, social and economic problems. By closely collaborating with the Institute of Human Movement Sciences of the Swiss Federal Institute of Technology and with the Institute of Experimental Immunology of the University Hospital, and by participating to international and national studies, this new centre contributes to the development of new therapies and treatments.
Book
- Therapy with cultured cells
by Howard Green
The author described in this book the discoveries in his laboratory that led to therapy with cultured cells. The first cultured cell type used for therapy was the keratinocyte of the epidermis, for the treatment of burns. Subsequent developments led to the use of cultured cells for the treatment of diseases of the eye, of the joints and for other diseases. Cultured cells for therapy are now being prepared by industries in the US, Japan and Korea and are used in the aforesaid countries as well as France, Sweden and Greece, for the treatment of disease. In addition to keratinocytes, therapeutic use has been made of many cultured cell types, such as ocular limbal cells, chondrocytes and melanocytes. In addition to these cell types, which must be autologous, use has also been made of allogeneic keratinocytes to promote healing.
> Therapy with cultured cells
> Therapy with cultured cells
Job opportunities
- Clinical training opportunity in neuromuscular translational medicine at Newcastle University
A new opportunity has arisen for a doctor wishing to develop a specialisation in neuromuscular medicine. Based in a UK Centre of Excellence at Newcastle University this programme has been developed around the partnership between academic and industrial partners, namely Newcastle University and PTC Therapeutics. Together they offer a unique opportunity for translational medicine training in the UK. This four-year course begins with a taught first year around many of the issues of drug development and trial design which is then followed by a three year PhD project. This is a full-time salaried position on a Clinical Research Associate salary scale. The successful applicant will be based in the Newcastle muscle team, and will be able to take part in clinical, research and TREAT-NMD activities within the centre.
The closing date for applications is 26th February 2010.
> For more information
The closing date for applications is 26th February 2010.
> For more information
- Kyba Lab: Postdoctoral positions in stem cell/iPS cell differentiation and reprogramming, University of Minnesota, Twin cities
Postdoctoral positions supported by two NIH Challenge Grants and the NHLBI Progenitor Cell Consortium are available in the laboratory of Dr. Michael Kyba at the University of Minnesota.
More information is available at: http://www.tc.umn.edu/~lhi/kybalab/
Applications including a letter of interest, curriculum vitae, and contact information for three references should be sent to: halle071@umn.edu
Applications including a letter of interest, curriculum vitae, and contact information for three references should be sent to: halle071@umn.edu
Test your knowledge
1. The U7 pre-clinical project involves the loco-regional injection of the vector-drug ‘AAV-U7’ into the muscle of which animal model:
a) monkey
b) dog
c) cat
d) hamster
a) monkey
b) dog
c) cat
d) hamster
2. Cardiac manifestations occur in what percentage of individuals with Type 1 Myotonic Dystrophy?
a) > 80%
b) 60%
c) <30%
d) 50%
a) > 80%
b) 60%
c) <30%
d) 50%
3. A new form of autosomal dominant limb-girdle muscular dystrophy has recently been described in which country?
a) Spain
b) Brazil
c) Italy
d) Tunisia
a) Spain
b) Brazil
c) Italy
d) Tunisia
4) Thyrotoxic hypokalemic periodic paralysis (TPP) is seen predominantly in which of the following populations?
a) Caucasians
b) Hispanics
c) African-Americans
d) Asians
a) Caucasians
b) Hispanics
c) African-Americans
d) Asians
5) The positive preliminary results from systemic treatment with AVI-4658 were observed after how many weeks of treatment?
a) 12 weeks
b) 6 weeks
c) 9 weeks
d) 20 weeks
a) 12 weeks
b) 6 weeks
c) 9 weeks
d) 20 weeks
Discover our selection of scientific and medical publications in the field of myology and of neuromuscular diseases.
The monthly Newsletter of the Institute of Myology keeps you up to date with developments in myology research, and presents a summary of the latest scientific, medical, political and associative news concerning neuromuscular diseases.
You can access our Newsletter by connecting directly to the Institute of Myology website, or by subscribing.
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| Editor-in-chief : Samia Ghozlane Editor : Anne Berthomier; Racquel N. Cooper. Editorial Board : Thomas Voit; J. Andoni Urtizberera; Stéphane Roques. Contact us – © 2010 – AFM-Institut de Myologie. All rights reserved. | |
