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44% of reported exonic polymorphisms of LAMA2 gene related to the MDC1A form are colocolized with exonic splicing enhancers

Siala O, Fakhfakh F
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 56

Notice complète contenu dans in "Myology 2011, 4th International Congress of Myology" Titre : 44% of reported exonic polymorphisms of LAMA2 gene related to the MDC1A form are colocolized with exonic splicing enhancers Type de document : Article Auteurs : Fakhfakh F Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) Année de publication : 2011 Pages : p. 56 Langues : Anglais (eng) Mots-clés : colloque Résumé : In our study, we analysed the colocalisation of exonic SNPs in LAMA2 gene related to the MDC1A form of congenital muscular dystrophy with exonic splicing enhancers (ESEs). Then, we searched the effect of allelic change on ESEs efficacy. The LAMA2 sequence was searched for ESE motifs using the web-based tool ESEfinder. Exons were screened for sequence motifs likely to be recognised by the SR proteins SF2/ASF, SC35, SRp40 and SRp55. Matching sequences are scored and only scores above thresholds are predicted to act as ESEs. Results showed the presence of 2709 ESEs in the 65 coding exons of LAMA2 gene; this number was reduced to 480 significant ESEs after applying the thresholds values filter. Secondly, the analysis of published sequence variations in LAMA2 gene showed the presence of 41 exonic SNPs, 18 of them colocalize with the identified significant ESEs, representing a fraction of about 44%. In addition, the allelic changes in 5 synonymous or non synonymous SNPs can abolish or create an ESE suggesting their potentially functional role in LAMA2 gene expression. These results indicate the utility to consider the functional role of exonic SNPs in splicing and can also answer to many questions about the disease susceptibility and about the phenotypic variability observed in patients sharing with the same mutation in LAMA2 gene.

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AAV-mediated gene transfer in limb-girdle muscular dystrophies

Richard I
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 28

Notice complète contenu dans in "Myology 2011, 4th International Congress of Myology" Titre : AAV-mediated gene transfer in limb-girdle muscular dystrophies Type de document : Article Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) Editeur : AFM-TELETHON Année de publication : 2011 Pages : p. 28 Langues : Anglais (eng) Mots-clés : ADN complémentaire ; ARN mitochondrial ; colloque ; dysferline ; dystrophie musculaire des ceintures ; épissage ; exon ; gène CAPN3 ; gène DYSF ; gène sarcoglycane ; modèle animal ; titine ; toxicité ; transfert de gène ; vecteur adénoassocié Résumé : Limb-girdle muscular dystrophies (LGMD) are a group of genetically heterogeneous muscular dystrophies grouped together on the basis of common clinical features: they all primarily and predominantly affect proximal muscles. Gene transfer to the muscle in animal models using recombinant adeno-associated virus (rAAV) vectors has proven to be an effective option for the treatment of several LGMD. However, hurdles linked to the nature of the transgene can be observed in some instance. For example, whereas for most of the LGMD, the size of the corresponding cDNA is compatible with the encapsidation capacity of rAAV, there are two notable exceptions: dysferlin and titin. To obtain correction of the genetic defects, we are applying strategies based on the capacity of AAV to concatemerize to transfer the dysferlin gene using head and tail vectors and spliceosome-mediated RNA trans-splicing to exchange exons in the titin gene. In addition, biosafety issues related to the generation of an immune response against the transgene in _-sarcoglycan gene transfer or to the toxicity of ectopic expression in calpain 3 gene transfer were identified. To circumvent these problems, restriction of transcription of transgenes to the target tissue by constructing cassettes carrying regulatory elements such as endogenous promoters and/or specific miRNA target are explored. In this presentation, results obtained with these different strategies will be presented.

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AAV-mediated transfer of the dysferlin gene is efficient in protecting the muscle from eccentric contractions

Pryadkina M, Bourg N, Lostal W, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 111

Notice complète contenu dans in "Myology 2011, 4th International Congress of Myology" Titre : AAV-mediated transfer of the dysferlin gene is efficient in protecting the muscle from eccentric contractions Type de document : Article Auteurs : Bourg N ; Lostal W ; Roche J ; Bloch R ; Borel P ; Stockholm D ; Richard I Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) Editeur : AFM-TELETHON Année de publication : 2011 Pages : p. 111 Langues : Anglais (eng) Résumé : Deficiencies in dysferlin (DYSF) are responsible for two main progressive muscular dystrophies: limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM). This transmembrane protein was shown to play a role in the repair of the plasma membrane by vesicle fusion, providing a possible hypothesis for the pathophysiology of these diseases. We previously demonstrated that a strategy relying on the concatemerization property of the AAV vector to transfer the dysferlin gene by means of two Adeno-Associated Viral vectors (AAV) was efficient to obtain full-length dysferlin expression in muscle. In addition, expression of the transgene was associated with restoration of the membrane repair potential and recovery of locomotor activity of the mice.The aim of the study was to determine whether this therapeutic strategy was efficient to protect the muscle from eccentric exercise. For this purpose, we undertook a comparison in wild-type and dysferlin deficient mice (B6.A/J-Dysfprmd) of different assays, including running protocols in treadmill and the large-strain injury (LSI) assay involving 15 repetitive lengthening contractions (Roche et al. 2008). All these tests were associated with Evans Blue injection to evaluate the muscle impairment. The difference in the number of Evans Blue positive cells obtained with the LSI was more significant than with the running protocol. Therefore, LSI was applied to dysferlin deficient mice that were injected by the two AAV vectors to investigate whether a restoration to the normal phenotype could be obtained. The results showed that expression of dysferlin was associated with an improved phenotype after LSI, indicating that the AAV-mediated transfer of the dysferlin gene has protected the muscle from damage resulting from eccentric contraction. These results validate the suitability of this test to discriminate between treated and untreated animals. A dose effect study with this test is on-going to define the minimum level of dysferlin required for reversal of the pathology.

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Abnormalities of cerebral arteries, cerebrovascular risk factors and cerebrovascular reserve capacity in patients with late-onset pompe disease under enzyme replacement therapy

Hanisch F, Hensel O, Bock K, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 126

Notice complète contenu dans in "Myology 2011, 4th International Congress of Myology" Titre : Abnormalities of cerebral arteries, cerebrovascular risk factors and cerebrovascular reserve capacity in patients with late-onset pompe disease under enzyme replacement therapy Type de document : Article Auteurs : Hensel O ; Bock K ; Stoltenburg G ; Weis J ; Zierz S Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) Editeur : AFM-TELETHON Année de publication : 2011 Pages : p. 126 Langues : Anglais (eng) Mots-clés : maladie de Pompe à début tardif Résumé : Background: Animal models and histopathological findings show glycogen accumulation and vacuolation in smooth muscles of the vessels in glycogenosis type II (Pompe disease). Several case reports had described cerebrovascular complications due to dilatative arteriopathy in the cerebral vessels mostly in the basilar artery (BA). A previous study using magnetic resonance angiography (MRA) found a dolichobasilaris in 4/6 patients with adult Pompe patients suggesting a high frequency of dilatative arteriopathy in late-onset Pompe patients (Sacconi et al. J Neurol 2010; 257: 1730-33). No data about vascular risk factors and the body weight under ERT are available. Patients and methods: Eight patients with genetically confirmed late-onset Pompe disease receiving enzyme replacement therapy (ERT) in our institution were analysed according to cerebrovascular risk factors and body mass index (BMI) under ERT. They underwent extracranial and transcranial duplex sonography, measurement of the cerebrovascular reserve capacity by transcranial Doppler sonography after application of intravenous acetazolamide, and magnetic resonance angiography (MRA) of the cerebral vessels. Muscle biopsy performed before the beginning of ERT was screened for changes in the smooth muscle and endothelium of vessels by light and electron microscopy. Results: In 10 ambulant patients (n=4 female, n=male, mean age: 48 years, mean duration of ERT: 33.5 months) the mean BMI was 28 (range: 18-36). The mean weight gain after 12 months of ERT was 5.1 kg (range: 1-16). However, 4/8 complained about persisting gastrointestinal signs (urge incontinence) not resuming under ERT. Apart from obesity (n=5), 3 patients had diabetes, 6 had arterial hypertension and 6 had hypercholesterinemia. Duplex sonography (n=8) showed thickened intima-media-complex in 3 patients and BA stenosis in 1. The cerebrovascular reserve capacity (n=2) was decreased in one (5%, normal range: >20) and normal in another patient (49%). Light microscopy showed glycogen accumulation in smooth muscle cells, but not endothelial cells in 5/5 biopsies.Conclusion: The present study confirms the high frequency of involvement of the smooth vascular muscles. The weight gain under ERT is known from other storage disorders and needs to be confirmed in a larger cohort as well as the high frequency of cerebrovascular risk factors in adult-onset Pompe disease.

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Abnormalities of proliferative and differentiative properties in DM1 and DM2 senescent myoblasts “in vitro”

Renna LV, Cardani R, Malatesta M, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 147

Notice complète contenu dans in "Myology 2011, 4th International Congress of Myology" Titre : Abnormalities of proliferative and differentiative properties in DM1 and DM2 senescent myoblasts “in vitro” Type de document : Article Auteurs : Cardani R ; Malatesta M ; Giagnacovo M ; Pellicciari C ; Meola G Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) Editeur : AFM-TELETHON Année de publication : 2011 Pages : p. 147 Langues : Anglais (eng) Résumé : Myotonic dystrophy (DM) is an autosomal dominant multisystemic disorder characterized by a variety of multisystemic features including myotonia, muscular dystrophy, cardiac dysfunctions, cataracts and insulin-resistance. One form of the disorder named myotonic dystrophy type 1 (DM1) is caused by an expanded (CTG)n, in the 3' untranslated region of the DMPK gene, while a second form of DM (DM2) is caused by the expansion of a tetranucleotidic repeat (CCTG)n in the intron 1 of the ZNF9 gene. The mutant transcripts accumulate in nuclear foci altering the function of the alternative splicing regulators CUGBP1 and MBLN1 proteins, which are necessary for the physiological processing of mRNAs. However, at the skeletal muscle level, this proposed pathogenetic mechanism does not explain the muscle weakness and atrophy observed in DM patients or the muscle histopathological features characteristic of these diseases. It has been observed that DM muscle shares similarities with the ageing muscle, where the progressive muscle weakness and atrophy is accompanied by a slower regenerative capacity possibly due to the failure in satellite cells activation. The aim of this study is to investigate the possible relationship between a premature cell ageing process and a differentiation defect in DM patients and their muscle cell phenotypes. Primary cultures of human myoblasts from DM1 (N=3), DM2 (n=3) and control patients (n=3) have been used to study the replicative in vitro senescence in term of morphology, proliferative and differentiation capability. The expression of several markers of proliferation, differentiation and senescence (PCNA, MyoD, Myogenin, p16&) has been analyzed. BrdU staining, PCNA expression and the mean population doubling values indicate that in vitro senescence of DM1 and DM2 myoblasts results in a reduction in their proliferative capability as compared to control myoblasts. Moreover, during in vitro senescence, a decrease in fusion index and an increase of p16 expression is observable in both DM and control myoblast. This impairment in differentiation potential of senescent myoblasts is more evident in DM muscle cells. The results of this study suggest that alterations in proliferation potential and differentiation capabilities of satellite cells obtained from DM muscle might contribute to some of the clinical and histopathological features observed in DM patients.

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Absence of T and B lymphocytes enhances skeletal muscle regeneration and ameliorates dystrophic pathology in dysferlin deficient animal model

Sitzia C, Farini A, Navarro C, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 111

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Absence of AQP4 in skeletal muscle alters proteins involved in bioenergetic pathways and calcium handling (poster)

Basco D, Nicchia GP, D’Alessandro A, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 132

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Accelerometry, a tool to monitor gait evolution during pre-clinical trials in GRMD dogs (poster)

Barthelemy I, Barrey E, Aguilar P, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 33

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Accumulation of unassembled collagen VI in endoplasmic reticulum does not induce the unfolded protein response in fibroblasts from patients with collagen VI-myopathy (poster)

Allamand V, Lainé J, Brinas L, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 57

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Acetylcholinesterase, a back door enzyme

Mondielli G, Conrod S, Debarnot C, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 121

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Actimetry and neuromuscular disorders : a system suitable for upper limb evaluation (poster)

Béré E, Benoit M, Vissière D, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 132

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Age and sex related differences in satellite cell number, proliferation and self renewal

Neal A, Boldrin L, Morgan J
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p.139

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Age, conduction defects and restrictive lung disease independently predict cardiac events and death in myotonic dystrophy

Kaminsky P, Poussel M, Pruna L, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 147

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AICAR stimulates mitochondrial biogenesis and ameliorates the dystrophic phenotype in the mdx mouse diaphragm

Marion P, Petrof BJ, Coisy-Quivy M, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 72

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Aldehyde dehydrogenase is expressed by distinct populations of muscle progenitors

Vauchez K, Catelain C, Marolleau JP, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 139

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Alpha-enolase is expressed on cardiomyocytes cell surface, and it is up regulated in an in vitro model of simulated ischemia-reperfusion

García-Melero A, Lopez-Alemany R, Roig-Borrellas A, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 48

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Ambient hypoxia enhances the muscle-mass loss after extensive injury

Chaillou T, Koulmann N, Simler N, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 33

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Amniotic fluid stem cells contribute to restore the satellite cell niche in a mouse model of spinal muscular atrophy

Piccoli M, Franzin C, Bertin E, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 173

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An usual presentation of LGMD1C

Simon J, Krahn M, Schaeffer S, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 112

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Analysis of clinical evaluation and age of onset in mexican patients with DM1

Escobar Cedillo RE, Fernandez MI, Hernandez-Hernandez O, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 147

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Analysis of deletions in SMN1, SMN2, and NAIP genes in spinal muscular atrophy patients from the east of Algeria

Yamina S, Karima S, Nouredine A, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 173

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Analysis of the human PTDINS-3-phosphatase myotubularin MTM1 intracellular functions using the yeast S. cerevisiae

Bertazzi D, Laporte J, Payrastre B, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 60

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Analysis of the human Ptdins-3-phosphatase myotubularin MTM1 intracellular functions using the yeast S. cerevisiae

Bertazzi D, Laporte J, Payrastre B, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 12

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ANO5 gene screening in an additional cohort of LGMD2L patients confirms high prevalence of the common exon 5 mutation

Sarkozy A, Hicks D, Hudson J, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 112

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Anoctamin 5 mutations cause aproximal LGMD2L and distal MMD3

Bolduc V, Conte TC, Marlow G, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 22

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