Duchenne muscular dystrophy

Neuromuscular Research Group

We study muscle homeostasis and regeneration under normal and pathologic conditions. The main goal of our project is to define the tissue signals and to characterize the molecular mechanisms of muscle wasting. Although considerable information has accumulated regarding the physiopathology of muscle diseases, the associated molecular mechanisms are still poorly understood.

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Lack of PKCθ promotes regenerative ability of muscle stem cells in chronic muscle injury

Duchenne muscular dystrophy (DMD) is a genetic disease characterized by muscle wasting and chronic inflammation, leading to impaired satellite cells (SCs) function and exhaustion of their regenerative capacity. We previously showed that lack of PKCθ in mdx mice, a mouse model of DMD, reduces muscle wasting and inflammation, and improves muscle regeneration and performance at early stages of the disease. In this study, we show that muscle regeneration is boosted, and fibrosis reduced in mdxθ-/- mice, even at advanced stages of the disease.

Dystrophin is required for the proper timing in retinal histogenesis: a thorough investigation on the mdx mouse model of Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is a lethal X-linked muscular disease caused by
defective expression of the cytoskeletal protein dystrophin (Dp427). Selected autonomic
and central neurons, including retinal neurons, express Dp427 and/or dystrophin shorter
isoforms. Because of this, DMD patients may also experience different forms of cognitive
impairment, neurological and autonomic disorders, and specific visual defects. DMDrelated
damages to the nervous system are established during development, suggesting

NGF-dependent axon growth and regeneration are altered in sympathetic neurons of dystrophic mdx mice

Duchenne muscular dystrophy (DMD) is a lethal disease, determined by lack of dystrophin (Dp427), a muscular cytoskeletal protein also expressed by selected neuronal populations. Consequently, besides muscular wasting, both human patients and DMD animal models suffer several neural disorders. In previous studies on the superior cervical ganglion (SCG) of wild type and dystrophic mdx mice (Lombardi et al. 2008), we hypothesized that Dp427 could play some role in NGF-dependent axonal growth, both during development and adulthood.