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Spinal Muscular Atrophy (SMA) is a recessive inherited disorder. The genes SMN1 and SMN2, located on chromosome 5, carry instructions for production of the necessary ‘survival of motor neurons’ (SMN) protein that’s deficient in SMA. In this study, research scientists at four U.S. institutions have successfully used gene therapy to treat newborn-SMA affected mice. Three approaches that have already shown success individually, but had not been previously combined, were used. These approaches were insertion of the SMN gene, use of an AAV9 viral transporter and intravenous delivery of the gene and transporter to the central nervous system. SMA-affected mice between 1 to 10 days old were used in the study. Ten days after injection, AAV9 was observed in the spinal cord motor neurons.

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The dihydropyridine receptor (DHPR), also known as alpha1S subunit is one of five subunits forming the L-type calcium channel, present in the membrane of T-tubules. This channel plays a role in muscle excitation-contraction coupling, the DHPR containing the Ca² pore and the voltage sensor resulting from the muscle action potential. A team from the Institute of Myology, supported by AFM, has demonstrated that a treatment leading to the under-expression of DHPR in the tibialis muscle of mice leads to muscular atrophy of the treated muscles after six months.

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Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi distal myopathy type are due to mutations in the gene encoding dysferlin DYSF (dysferlinopathies). Gene therapy aiming to replace the defective gene with an intact gene using AAV viral vectors is one of the treatment approaches for these diseases, but the DYSF gene is too large to be contained within AAV vectors. In this article, a team from Genethon led by Isabelle Richard and supported by the AFM has succeeded in restoring the production of full-length and functional dysferlin in mouse models of dysferlinopathies.

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