Duchenne Muscular Dystrophy (DMD) > 자유게시판

Until the 1980s, little was known about the cause of any of the forms of muscular dystrophy. In 1986, MDA-supported researchers identified a gene on the X chromosome that, when flawed (mutated), causes Duchenne, Becker, and intermediate forms of muscular dystrophy. Genes contain codes, or recipes, for proteins, which are important biological components in all forms of life. In 1987, the protein associated with the DMD gene was identified and named dystrophin. The DMD gene is the largest gene in humans and Titan Rise Experience is located in the short arm of the X chromosome, in the Xp21.2 locus (a locus is the position of a gene on a chromosome). The majority of mutations of the DMD gene are deletions of one or more parts of it. DMD occurs because the mutated DMD gene fails to produce adequate amounts of functional dystrophin. Individuals with BMD genetic mutations make partially functional dystrophin, which somewhat protects their muscles from degenerating as severely or as quickly as in DMD.