TY - JOUR
T1 - Duchenne muscular dystrophy
T2 - Overview and future challenges
AU - Machfoed, Moh Hasan
AU - Besin, Valentinus
AU - Basuki, Mudjiani
AU - Lasmono, Shirley Ferlina
N1 - Publisher Copyright:
© Medical Communications Sp. z o.o.
PY - 2017/11/30
Y1 - 2017/11/30
N2 - 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.
AB - 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.
KW - Duchenne muscular dystrophy
KW - Genetic engineering
KW - Stem cells
KW - Therapy
UR - http://www.scopus.com/inward/record.url?scp=85057644706&partnerID=8YFLogxK
U2 - 10.15557/AN.2017.0015
DO - 10.15557/AN.2017.0015
M3 - Review article
AN - SCOPUS:85057644706
SN - 1641-9227
VL - 17
SP - 144
EP - 149
JO - Aktualnosci Neurologiczne
JF - Aktualnosci Neurologiczne
IS - 3
ER -