Publications by authors named "J Dumonceaux"
Article Synopsis
- DUX4 is the main gene linked to facioscapulohumeral dystrophy (FSHD), with effective mouse models, such as ACTA1-MCM/FLExDUX4, being used for research.
- The study focused on observing muscle changes in tibialis anterior and quadriceps at various stages, confirming the presence of progressive muscular dystrophy and identifying issues related to tamoxifen use and gene selection for DUX4 assessment.
- A new functional test was created to assess muscle strength, which revealed that DUX4 expression leads to weaker muscles with lower initial force but maintained power and endurance, suggesting potential applications for this model in human clinical evaluations.
Article Synopsis
- Ongoing clinical trials are investigating the use of myostatin inhibitors to enhance muscle mass in patients with spinal muscular atrophy (SMA), but restoring normal myostatin levels may be necessary first.
- A study analyzed myostatin and follistatin levels in 25 SMA patients before and after treatment with nusinersen, examining their correlation with disease severity and motor function over time.
- Although some relationships between myostatin levels and motor function were found, there was no significant effect of nusinersen on myostatin or follistatin levels, indicating the need for further research on the impact of disease-modifying treatments on these proteins and patient selection for future trials.
Facioscapulohumeral dystrophy (FSHD) is a skeletal muscle disease caused by the aberrant expression of the DUX4 gene in the muscle tissue. To date, different therapeutic approaches have been proposed, targeting DUX4 at the DNA, RNA or protein levels. The recent development of the clustered regularly interspaced short-palindromic repeat (CRISPR) based technology opened new avenues of research, and FSHD is no exception.
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