EFFECT OF ARTIFICIAL (CTG) REPEAT EXPANSION ON THE EXPRESSION OF MYOTONIN PROTEIN-KINASE (MTPK) IN COS-1 CELLS

Authors
SASAGAWA N SAITOH N SHIMOKAWA M SORIMACHI H MARUYAMA K ARAHATA K ISHIURA S SUZUKI K
Citation
N. Sasagawa et al., EFFECT OF ARTIFICIAL (CTG) REPEAT EXPANSION ON THE EXPRESSION OF MYOTONIN PROTEIN-KINASE (MTPK) IN COS-1 CELLS, Biochimica et biophysica acta. Molecular basis of disease, 1315(2), 1996, pp. 112-116
Citations number
21
Categorie Soggetti
Biology,Biophysics
Journal title
Biochimica et biophysica acta. Molecular basis of disease → ACNP
ISSN journal
09254439
Volume
1315
Issue
2
Year of publication
1996
Pages
112 - 116
Database
ISI
SICI code
0925-4439(1996)1315:2<112:EOA(RE>2.0.ZU;2-7
Abstract
A major challenge in the study of a new genetic entity called triplet- repeat disease is to identify the role of triplet repeats in the patho genesis of the disease. We have developed a strategy to demonstrate th e effect in the 3'-untranslated end of the (CTG) repeats in myotonic d ystrophy gene (MtPK) and found that repeat expansion (CTG(46)) causes a slight decrease in the translation rate of MtPK cDNA, which correlat es with the finding in patients with myotonic dystrophy of a low amoun t of MtPK protein in muscle. These results provide an important clue f or characterizing the genetic abnormality in other triplet-repeat dise ases.