The "rescue" of dystrophin synthesis in boys with Duchenne muscular dystrophy. 1993

L V Nicholson
Muscular Dystrophy Group Research Laboratories, Newcastle General Hospital, Newcastle upon Tyne, U.K.

Over the last few years it has become clear that a proportion of biopsies from patients with Duchenne muscular dystrophy (DMD) contain fibres which show dystrophin-positive immunolabelling. We have collected evidence to demonstrate that low level restoration of the reading frame must have been taking place and that a BMD-like protein was being synthesized in DMD muscle. We have also found a relationship between the abundance of dystrophin (determined by densitometric analysis of blots) and the age at which boys lose the ability to walk independently. Thus, even the low levels of dystrophin in DMD patients may have a functional significance. We now suggest that exon skipping, whereby an existing frame-shifting deletion is modified and extended to an in-frame mutation, may be responsible for the limited rescue of dystrophin synthesis in the muscle from many DMD patients.

UI MeSH Term Description Entries
D008297 Male Males
D009043 Motor Activity Body movements of a human or an animal as a behavioral phenomenon. Activities, Motor,Activity, Motor,Motor Activities
D009132 Muscles Contractile tissue that produces movement in animals. Muscle Tissue,Muscle,Muscle Tissues,Tissue, Muscle,Tissues, Muscle
D009136 Muscular Dystrophies A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS. Muscular Dystrophy,Myodystrophica,Myodystrophy,Dystrophies, Muscular,Dystrophy, Muscular,Myodystrophicas,Myodystrophies
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D005091 Exons The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA. Mini-Exon,Exon,Mini Exon,Mini-Exons
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D016138 Walking An activity in which the body advances at a slow to moderate pace by moving the feet in a coordinated fashion. This includes recreational walking, walking for fitness, and competitive race-walking. Ambulation
D016189 Dystrophin A muscle protein localized in surface membranes which is the product of the Duchenne/Becker muscular dystrophy gene. Individuals with Duchenne muscular dystrophy usually lack dystrophin completely while those with Becker muscular dystrophy have dystrophin of an altered size. It shares features with other cytoskeletal proteins such as SPECTRIN and alpha-actinin but the precise function of dystrophin is not clear. One possible role might be to preserve the integrity and alignment of the plasma membrane to the myofibrils during muscle contraction and relaxation. MW 400 kDa.

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