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Preservation of the C-terminus of dystrophin molecule in the skeletal muscle from Becker muscular dystrophy.

Abstract：

:Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive disorder of muscle in children. The DMD gene product, "dystrophin", is absent from DMD, while the allelic disease, Becker muscular dystrophy (BMD), exhibits dystrophin of abnormal size and/or quantity. But we are still uncertain about the scenario that internally deleted (or duplicated) dystrophin in BMD possesses its carboxy (C)-terminal region, and severely truncated dystrophin in DMD does not. Here we use a new monoclonal antibody directed against an peptide in the C-terminal end of the dystrophin molecule to show that the C-terminus is preserved in 30 BMD and 24 control skeletal muscles but not in 21 DMD specimens. This result, taken together with data on deletions of the dystrophin gene, emphasizes both the diagnostic and biological importance of the C-terminal domain which is required for proper function and stability of dystrophin, and substantiates the validity of the reading frame hypothesis for DMD versus BMD deletions on a biochemical level.

journal_name

J Neurol Sci

journal_title

Journal of the neurological sciences

authors

Arahata K,Beggs AH,Honda H,Ito S,Ishiura S,Tsukahara T,Ishiguro T,Eguchi C,Orimo S,Arikawa E

doi

10.1016/0022-510x(91)90039-a

subject

Has Abstract,Author List Incomplete

pub_date

1991-02-01 00:00:00

pages

148-56

issue

2

eissn

0022-510X

issn

1878-5883

pii

0022-510X(91)90039-A

journal_volume

101

pub_type

杂志文章

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