Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy.

TitleDecreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy.
Publication TypeJournal Article
Year of Publication1993
AuthorsFu, YH, Friedman, DL, Richards, S, Pearlman, JA, Gibbs, RA, Pizzuti, A, Ashizawa, T, Perryman, MB, Scarlato, G, Fenwick, RG
JournalScience
Volume260
Issue5105
Pagination235-8
Date Published1993 Apr 09
ISSN0036-8075
KeywordsAdult, Alternative Splicing, Amino Acid Sequence, Base Sequence, Gene Expression, Humans, Molecular Sequence Data, Molecular Weight, Muscles, Myotonic Dystrophy, Myotonin-Protein Kinase, Polymerase Chain Reaction, Protein Kinases, Protein-Serine-Threonine Kinases, RNA, Messenger
Abstract

The myotonic dystrophy mutation has recently been identified; however, the molecular mechanism of the disease is still unknown. The sequence of the myotonin-protein kinase gene was determined, and messenger RNA spliced forms were identified in various tissues. Antisera were developed for analytical studies. Quantitative reverse transcription-polymerase chain reaction and radioimmunoassay were used to demonstrate that decreased levels of the messenger RNA and protein expression are associated with the adult form of myotonic dystrophy.

Alternate JournalScience
PubMed ID8469976
Grant ListP30-HG00210 / HG / NHGRI NIH HHS / United States