Duchenne muscular dystrophy (BMD) is an inherited X-link disease. The incidence of this muscle-wasting disease is 1:5000 male live births. Mutation in the gene coding for dystrophin is the main cause of BMD. Most cases of this disease succumb to respiratory and cardiac failure in 3rd to 4th decades. The slow progression of BMD and recent achievement of gene therapies make it as an appropriate c...

BACKGROUND Dihydropyrimidinase Related Proteins (DRPs) have known homologous to the Collapsing Response Mediator Proteins (CRMPs). The DRP gene family has comprised four members, DRP 1, 2, 3, and 4, all out of which have considered to be involved in axonal outgrowth and path-finding. METHODS The protein has extracted from tumor, normal brain tissues, and then the protein purity has evaluated ...

Differential-display or RNA fingerprint was applied to identify genes differentially expressed in monocyte maturation induced by an immunomodulating peptide on human peripheral blood mononuclear cells. Two unknown sequences (06c22 and 06c71) and p21 protein (cyclin dependent kinase inhibitor) were repressed, and three genes activated: Cathepsin D, DRP2 (dihydropirimidinase related protein 2), a...

5'-mutations in the dystrophin gene can result in cardiomyopathy without clinically-apparent skeletal myopathy. The effect of dystrophin mutations on the assembly and stability of the dystrophin associated protein (DAP) complex in human heart are not fully understood. The molecular defect in the dystrophin complex was explored in a family with an X-linked pedigree and severe dilated cardiomyopa...

Microtubule-associated proteins of the MAP1 family (MAP1A, MAP1B, and MAP1S) share, among other features, a highly conserved COOH-terminal domain approximately 125 amino acids in length. We conducted a yeast 2-hybrid screen to search for proteins interacting with this domain and identified α1-syntrophin, a member of a multigene family of adapter proteins involved in signal transduction. We furt...

muscle biopsy interpretation has been revolutionized by ihc. immunohistochemistry now has an essential role in the evaluation of the muscle biopsies and in examining proteins localizations. advances in the characterization of sarcolemmal proteins and recognition that defects in the genes encoding such proteins may lie at the heart of the multiple differing forms of muscular dystrophy have been ...

Duchenne Muscular dystrophy (DMD) is caused by a mutation of the dystrophin gene – the largest human gene, with 79 exons – located at p21 on the X chromosome. Mutations of the dystrophin gene include deletions in 60% of the cases, duplications in 5-10% and point mutations in the rest [1]. A variation in the mutation can result in a milder form of the disease – Becker muscle dystrophy (BMD) – wh...

Duchenne muscular dystrophy is a genetic orphan neuromuscular disease caused by mutation in the DMD gene encoding protein dystrophin. As result of developing and progressive muscle damage atrophy, children lose ability to walk, develop respiratory cardiac disorders. The core elements good care standards are early diagnosis, prevention treatment osteoporosis, daily physical therapy, regular reha...

Duchenne muscular dystrophy (DMD) is a fatal disease caused by defects in the gene encoding dystrophin. Dystrophin is a cytoskeletal protein, which together with its associated protein complex, helps to protect the sarcolemma from mechanical stresses associated with muscle contraction. Gene therapy efforts aimed at supplying a normal dystrophin gene to DMD muscles could be hampered by host immu...

We have characterized a protein immunologically related to dystrophin, the protein product of the Duchenne muscular dystrophy gene. We identify this related protein as a fast-twitch glycolytic isoform (mouse extensor digitorum longus-specific) of myofibrillar alpha-actinin. This specific isoform of alpha-actinin exhibits a more restricted pattern of expression in skeletal muscle than fast-twitc...