Becker muscular dystrophy patients with deletions around exon 51; a promising outlook for exon skipping therapy in Duchenne patients

• Published in: Neuromuscular disorders : NMD Vol. 20; no. 4; pp. 251 - 254
• Main Authors: Helderman-van den Enden, A.T.J.M, Straathof, C.S.M, Aartsma-Rus, A, den Dunnen, J.T, Verbist, B.M, Bakker, E, Verschuuren, J.J.G.M, Ginjaar, H.B
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.04.2010
• Subjects: Adolescent; Aged; Becker muscular dystrophy; Child; Child, Preschool; DNA Mutational Analysis; Duchenne muscular dystrophy; Dystrophin - chemistry; Dystrophin - genetics; Dystrophin - metabolism; Exon 51; Exon skipping therapy; Exons - genetics; Genetic Predisposition to Disease - genetics; Genetic Testing; Genetic Therapy - methods; Humans; Male; Middle Aged; Mild phenotype; Molecular Weight; Muscular Dystrophy, Duchenne - genetics; Muscular Dystrophy, Duchenne - metabolism; Muscular Dystrophy, Duchenne - physiopathology; Mutation - genetics; Neurology; Oligoribonucleotides, Antisense - pharmacology; Oligoribonucleotides, Antisense - therapeutic use; Open Reading Frames - genetics; Phenotype; Severity of Illness Index; Exon 51; Becker muscular dystrophy; Exon skipping therapy; Databases; Mild phenotype; Duchenne muscular dystrophy
• ISSN: 0960-8966; 1873-2364
• DOI: 10.1016/j.nmd.2010.01.013

Abstract Theoretically, 13% of patients with Duchenne muscular dystrophy may benefit from antisense-mediated skipping of exon 51 to restore the reading frame, which results in the production of a shortened dystrophin protein. We give a detailed description with longitudinal follow up of three patients with Becker muscular dystrophy with in-frame deletions in the DMD gene encompassing exon 51. Their internally deleted, but essentially functional, dystrophins are identical to those that are expected as end products in DMD patients treated with the exon 51 skipping therapy. The mild phenotype encourages further development of exon 51 skipping therapy.