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...
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| Format: | Article |
| Language: | English |
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Medical Communications Sp. z o.o.
2017-11-01
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| Series: | Aktualności Neurologiczne |
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| Online Access: | http://neurologia.com.pl/index.php/issues/2017-vol-17-no-3/duchenne-muscular-dystrophy-overview-and-future-challenges?aid=949 |
| _version_ | 1818083628534464512 |
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| author | Moh Hasan Machfoed Valentinus Besin Mudjiani Basuki Shirley Ferlina Lasmono |
| author_facet | Moh Hasan Machfoed Valentinus Besin Mudjiani Basuki Shirley Ferlina Lasmono |
| author_sort | Moh Hasan Machfoed |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-10T19:41:01Z |
| format | Article |
| id | doaj.art-d15cc38cb2864739aa22c900194e9aa2 |
| institution | Directory Open Access Journal |
| issn | 1641-9227 2451-0696 |
| language | English |
| last_indexed | 2024-12-10T19:41:01Z |
| publishDate | 2017-11-01 |
| publisher | Medical Communications Sp. z o.o. |
| record_format | Article |
| series | Aktualności Neurologiczne |
| spelling | doaj.art-d15cc38cb2864739aa22c900194e9aa22022-12-22T01:36:00ZengMedical Communications Sp. z o.o.Aktualności Neurologiczne1641-92272451-06962017-11-0117314414910.15557/AN.2017.0015Duchenne muscular dystrophy: overview and future challengesMoh Hasan Machfoed0Valentinus Besin1Mudjiani Basuki2Shirley Ferlina Lasmono3Department of Neurology, Faculty of Medicine, Universitas Airlangga, Surabaya, IndonesiaDepartment of Neurology, Faculty of Medicine, University of Surabaya, Surabaya, IndonesiaDepartment of Neurology, Faculty of Medicine, Universitas Airlangga, Surabaya, IndonesiaDepartment of Pediatrics, Faculty of Medicine, Universitas Airlangga, Surabaya, IndonesiaDuchenne 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.http://neurologia.com.pl/index.php/issues/2017-vol-17-no-3/duchenne-muscular-dystrophy-overview-and-future-challenges?aid=949Duchenne muscular dystrophytherapygenetic engineeringstem cells |
| spellingShingle | Moh Hasan Machfoed Valentinus Besin Mudjiani Basuki Shirley Ferlina Lasmono Duchenne muscular dystrophy: overview and future challenges Aktualności Neurologiczne Duchenne muscular dystrophy therapy genetic engineering stem cells |
| title | Duchenne muscular dystrophy: overview and future challenges |
| title_full | Duchenne muscular dystrophy: overview and future challenges |
| title_fullStr | Duchenne muscular dystrophy: overview and future challenges |
| title_full_unstemmed | Duchenne muscular dystrophy: overview and future challenges |
| title_short | Duchenne muscular dystrophy: overview and future challenges |
| title_sort | duchenne muscular dystrophy overview and future challenges |
| topic | Duchenne muscular dystrophy therapy genetic engineering stem cells |
| url | http://neurologia.com.pl/index.php/issues/2017-vol-17-no-3/duchenne-muscular-dystrophy-overview-and-future-challenges?aid=949 |
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