In DMD muscle/cell, the effects of steroids include postrascriptionally mediated utrophin accumulation ; increasing muscle mass by inhibition of muscle proteolysis [68, 69]; enhancing dystrophin
expression ; inhibiting myotube death during myogenesis ; and reducing the number of mononuclear inflammatory cells and dendritic cells .
"This novel porcine stress syndrome is not a malignant hyperthermia like the classical stress syndrome; it's a defect in dystrophin
," Nonneman says.
Duchenne Muscular Dystrophy is an X-linked recessive, fatal genetic disorder resulting from mutations in the dystrophin
gene located at Xp21 region2.
Patients lack a single important protein in their muscle fibres called dystrophin
. By ages eight to 12 years boys become unable to walk, and by their late teens or early twenties the condition can become severe enough to limit life expectancy.
is a very large protein having 3685 amino acids.
These originate from deleterious mutations in the dystrophin
gene, leading to a loss of the protein product (Miura and Jasmin, 2006) .In turn, the absence of dystrophin
protein results in segmental necrosis of muscle fibers, leading to severe skeletal muscle wasting and death in early adulthood (Cohen and Muntoni, 2004; Simon et al., 2004).
The second dystrophin
amplimer group consists of 38 amplicons of symmetric exons [(0,0), (1,1), (2,2)].
(2016) obtained promising results using viral vectors to correct mutations in the dystrophin
gene with CRISPR-Cas9 associated or not with TALENs in cultures of progenitor muscle cells derived from mdx mice.
Xp21 contiguous gene deletion is a microdeletion syndrome with intellectual disability,congenital adrenal hypoplasia,glyserol kinase deficiency and dystrophinopathy.It is a rare disease, reported in around 100 boys and 8 girls in the literature to date.In Xp21 locus,there are dystrophin
, GK,DAX1 (NROB1) and IL1RAPL1 genes which are related with dystrophinopathy,glycerol kinase, congenital adrenal hypoplasia and intellectual disability, respectively.In our patient,there was Xp21 deletion including dystrophin
,GK,DAX1 and IL1RAPL1 genes.
People with Duchenne muscular dystrophy are unable to produce a protein known as dystrophin
that is needed by the cells of the muscles.
X-linked Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene, which encodes the dystrophin
protein required for stability of the sarcolemma.
is a natural toxin in the body that repairs muscles.