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Interest of the canine models in hereditary myopathies * Research of therapeutic processes * Development of tools of functional evaluations  |
unit of study and therapy of myopathies The
myopathies are affections characterized by a degeneration of the
muscular
tissue, the most known being the Duchenne myopathy or Duchenne Muscular
Dystrophy (DMD). This is a genetic
disease linked to the X chromosome, which affects one boy out of 3500. It
results from mutations in the gene encoding the dystrophin, a
monumental
protein (427 kD). Normally localised under the muscle fibre membrane,
the
dystrophin connects the cytoskeleton to the basal lamina. In patients
affected
by dystrophinopathy (pool of diseases linked to dystrophin anomalies),
the absence
or the dysfunction of the dystrophin weakens the muscle fibre membrane.
It
results from that, cycles of necroses and regenerations which gradually
exhaust
the muscular regeneration capacities. Currently, there is no
curative
treatment of the disease. However, novel therapeutic strategies,
involving
cellular, genic or pharmacological tools, are promising.
The Unit of Study and Therapy of Myopathies is directed by Stéphane Blot, and studies canine and feline hereditary myopathies. Then, using phenotypic and molecular characterizations of these diseases, the UETM adapts to the affected dogs therapeutic strategies having already proven their abilities in vitro or in small-size animal models. Thereby, the UETM undertakes preclinical researches. In order to evaluate the efficiency of the performed strategies, the group develops tools of functional evaluations, often applicable to the human patient. |
