Over expression of the murine myotonic dystrophy protein kinase in the mouse myogenic C2C12 cell line leads to inhibition of terminal differentiation.

Abstract:

:Myotonic dystrophy (DM) is an autosomal dominant human disorder, caused by the abnormal expansion of a CTG trinucleotide repeat in the 3' untranslated region of a protein kinase gene (DMPK). Muscle symptoms are a common feature of the disorder and in the adult onset cases there are increased patterns of muscle fibre degeneration and regeneration. In the congenitally affected infants there is a failure of muscle maturation, with the histological presence of numerous immature fibres. However, the pathological mechanism in both forms of the disease is unclear. We report that over-expression of the murine dmpk gene, in a murine myogenic cell line, leads to markedly reduced levels of fusion to the terminally differentiated state. These findings complement recently published data using a heterologous expression/cell system and may have implications for the understanding of the disease process in this disorder.

authors

Okoli G,Carey N,Johnson KJ,Watt DJ

doi

10.1006/bbrc.1998.8723

subject

Has Abstract

pub_date

1998-05-29 00:00:00

pages

905-11

issue

3

eissn

0006-291X

issn

1090-2104

pii

S0006-291X(98)98723-X

journal_volume

246

pub_type

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