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Read about a series of articles collected each week from different information sources. This information is classified according to theme and is automatically archived. Particular attention is given to scientific and medical publications. Each is presented in the form of an educational synthesis, summarising the main points of the article and its author’s conclusions. All the information of a medical and scientific nature presented on our site has been selected, compiled and validated by a team of specialist editors

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A study of the prevalence of heart disease in adults with primary mitochondrial respiratory chain disease
Mitochondrial diseases are a clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial respiratory chain. The muscles are predominantly affected, however, any organ can be affected in mitochondrial diseases. The prevalence and natural history of cardiovascular disease in adult patients with respiratory chain disease (RCD) is poorly characterized. In this article, researchers from The Heart Hospital, University College London, determined the frequency and natural history of cardiac disease in 32 adults with primary RCD.
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Beneficial effect of deflazacort in two children with limb girdle muscular dystrophy type 2E
Limb-girdle muscular dystrophy type 2E (LGMD2E), also known as beta-sarcoglycanopathy, is an autosomal recessive muscle disorder. The clinical presentation includes limb weakness with proximal muscles affected more than distal and a progressive clinical course with loss of independent ambulation in the second decade and elevated creatine kinase 3–22 times normal. Currently, no therapeutic options have been suggested for patients with LGMD 2E. Corticosteroid treatments with prednisone or deflazacort have been shown to slow disease progression in other diseases of dystrophin complex such as Duchenne muscular dystrophy (DMD).
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Gene therapy of rare diseases : Généthon initiates a new clinical trial for a severe immune deficiency (Wiskott-Aldrich syndrome)
Généthon, the not-for-profit biotherapy laboratory operated by the French Muscular Dystrophy Association (AFM) with funding from the country's annual Telethon*, has just obtained approval from the French and British health authorities for a Phase I/II clinical trial of gene therapy for a rare immunodeficiency, Wiskott-Aldrich syndrome (WAS). The Généthon-sponsored trial will be performed both in France (led by Professors Alain Fischer and Marina Cavazzana-Calvo at Necker Children's Hospital, Paris) and in the UK (led by Professor Adrian Thrasher at London's Great Ormond Street Hospital). With just a few days to go to Rare Disease Day 2010 (February 28th, with a focus on "Bridging Patients and Researchers”), initiation of this trial marks a new step towards curing rare diseases with innovative biotherapies.
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Généthon appoints biopharma industry expert Frédéric Revah as Chief Executive
Généthon, the not-for-profit biotherapy research centre created by the French Muscular Dystrophy Association (AFM) and funded with donations from the country's annual Telethon, today announced the appointment of Frédéric Revah PhD as Chief Executive.
Frédéric Revah brings over 20 years' experience in the pharmaceutical and biotech industries and academic research to the job. Généthon will notably benefit from his acknowledged expertise in the management of therapeutic innovation.
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The histone deacetylase inhibitor SAHA improves the phenotype of proximal spinal muscular atrophy in two mouse models
Spinal amyotrophy (SMA) is characterized by the loss of anterior horn motor neurons of the spinal cord causing paralysis. SMA is caused by functional loss of the survival motor neuron gene 1 (SMN1) due to homozygous deletion, gene conversion or subtle mutations. The number of SMN2 copy genes mainly influences the severity of SMA. SMN2 carries a translationally silent mutation that affects splicing of exon 7 and produces only about 10% full-length SMN2 transcript and protein that is identical to the protein encoded by SMN1. The majority of SMN2 transcripts lack exon 7 (SMN2Δ7) and encode a truncated and unstable protein. One therapeutic strategy thus aims to enhance the expression of the SMN2 gene to increase the level of the SMN protein.
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