Duchenne muscular dystrophy: overview and future challenges
Duchenne muscular dystrophy is a muscle disease caused by mutation in the gene that encodes the cytoskeletal protein dystrophin. It is inherited in an X-linked recessive fashion. A number of therapies are continuously being developed to slow down the progression of the disease and increase patient...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Medical Communications Sp. z o.o.
2017-11-01
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| Series: | Aktualności Neurologiczne |
| Subjects: | |
| Online Access: | http://neurologia.com.pl/index.php/issues/2017-vol-17-no-3/duchenne-muscular-dystrophy-overview-and-future-challenges?aid=949 |
| Summary: | Duchenne muscular dystrophy is a muscle disease caused by mutation in the gene that encodes the cytoskeletal protein
dystrophin. It is inherited in an X-linked recessive fashion. A number of therapies are continuously being developed to slow
down the progression of the disease and increase patients’ life expectancy. Steroid use in Duchenne muscular dystrophy is
associated with a lower mortality rate (hazard ratio = 0.24; 95% CI = 0.07–0.91; p = 0.0351). Although recent studies have
concluded that prolonged steroid use is associated with short stature and overweight, a meta-analysis of 12 studies has shown
that steroids can increase strength, muscle function, and quality of life. Restoration of dystrophin gene expression is the basis
of genetically engineered therapies. Potential therapies of this type include exon skipping, the use of recombinant adenoassociated
virus which delivers mini-dystrophin, and surrogate gene transfer. In their development, the common challenges
are associated with the size of gene product and the origin of dystrophin gene expression. Stem cells are promising for future
therapy. Regardless of the challenges and controversies associated with stem cells, several clinical trials show an increase
of muscle strength in patients who have received such therapies. |
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| ISSN: | 1641-9227 2451-0696 |