Guérir la myopathie de Duchenne par l’utrophine ?

Gillis, Jean-Marie

doi:10.1051/medsci/2004204442

Cited by 5 publications

(1 citation statement)

References 20 publications

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“…Duchenne muscular dystrophy (DMD) is a muscle disorder of genetic origin. It is caused by dystrophin gene mutations on chromosome Xp21 and causes degeneration and atrophy of cardiac and skeletal striated muscles (1,2,3,4). Its incidence is about 1 in 3,500 live-born males.…”

Section: Introductionmentioning

confidence: 99%

Analysis of cardiac exams: electrocardiogram and echocardiogram use In Duchenne muscular dystrophies

et al. 2014

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Introduction Duchenne Muscular Dystrophies (DMD) is a genetic muscle disorder that causes degeneration and atrophy of skeletal muscle and heart. Objective The aim of this survey is accomplish an evaluation electrocardiographic and echocardiography in the patients bearers of Duchene Muscular Dystrophies (DMD), to observe which alterations, which the degree of cardiac compromising these patient present and the effectiveness of these exams in the evaluation cardiologic. Methods Nine patients of the sex male bearers of DMD, with medium age of 14.12 ± 4.19 years, varying of 7 to 23 years were appraised. All were submitted to the evaluation physiotherapy and the cardiologic: electrocardiogram and echocardiogram. Results The experimental conditions of the present survey we propitiate the observation of the alterations echocardiography, as well as: significant increase in the diastolic diameter of the left ventricular (LV), increase in the systolic diameter of the left atrium (LA), and significant decrease of the ejection fraction of the LV, characterizing global systolic function reduced, and of the alterations electrocardiographic suggested possible overload of RV, septum hypertrophy, blockade of left previous fascicle and overload of atrium left. Compatible alterations of hypertrophy left ventricular were not observed. Conclusion The evidences corroborate with the data described in the literature in the characterization of an important heart compromising that these patient present, like this the evaluation cardiologic, through the complemented exams of the echocardiography and electrocardiography provide important information for the prognostic, the accompaniment, and the treatment of patient bearers of DMD.

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Section: Introductionmentioning

confidence: 99%

Analysis of cardiac exams: electrocardiogram and echocardiogram use In Duchenne muscular dystrophies

et al. 2014

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Regulatable gene expression systems for gene therapy applications: progress and future challenges

et al. 2005

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Gene therapy aims to revert diseased phenotypes by the use of both viral and nonviral gene delivery systems. Substantial progress has been made in making gene transfer vehicles more efficient, less toxic, and nonimmunogenic and in allowing long-term transgene expression. One of the key issues in successfully implementing gene therapies in the clinical setting is to be able to regulate gene expression very tightly and consistently as and when it is needed. The regulation ought to be achievable using a compound that should be nontoxic, be able to penetrate into the desired target tissue or organ, and have a half-life of a few hours (as opposed to minutes or days) so that when withdrawn or added (depending on the regulatable system used) gene expression can be turned "on" or "off" quickly and effectively. Also, the genetic switches employed should ideally be nonimmunogenic in the host. The ability to switch transgenes on and off would be of paramount importance not only when the therapy is no longer needed, but also in the case of the development of adverse side effects to the therapy. Many regulatable systems are currently under development and some, i.e., the tetracycline-dependent transcriptional switch, have been used successfully for in vivo preclinical applications. Despite this, there are no examples of switches that have been employed in a human clinical trial. In this review, we aim to highlight the main regulatable systems currently under development, the gene transfer systems employed for their expression, and also the preclinical models in which they have been used successfully. We also discuss the substantial challenges that still remain before these regulatable switches can be employed in the clinical setting.

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Naturally occurring utrophin correlates with disease severity in Duchenne muscular dystrophy

Kleopa¹,

Drousiotou²,

Mavrikiou³

et al. 2006

Human Molecular Genetics

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Although there is good experimental data that utrophin, the autosomal analog of dystrophin, can ameliorate the phenotype in dystrophinopathies, there is scant evidence from human data to support this hypothesis. We investigated in diagnostic muscle biopsies from 16 patients with Duchenne muscular dystrophy (DMD) the level of utrophin expression using quantitative immunoblot analysis. In 13 of 16 patients, in whom there was adequate follow-up data, utrophin expression was correlated to two clinical endpoints: age at reaching Hammersmith score of 30/40 and age at becoming wheelchair-bound. We found that utrophin expression increases with age in DMD and that there is a significant positive correlation between the quantity of utrophin at initial biopsy and time to becoming wheelchair-bound.

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Guérir la myopathie de Duchenne par l’utrophine ?

Cited by 5 publications

References 20 publications

Analysis of cardiac exams: electrocardiogram and echocardiogram use In Duchenne muscular dystrophies

Analysis of cardiac exams: electrocardiogram and echocardiogram use In Duchenne muscular dystrophies

Regulatable gene expression systems for gene therapy applications: progress and future challenges

Naturally occurring utrophin correlates with disease severity in Duchenne muscular dystrophy

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