Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
, 18 (2), 340-8

Absence of Myotonic Dystrophy Protein Kinase (DMPK) mRNA as a Result of a Triplet Repeat Expansion in Myotonic Dystrophy

Affiliations

Absence of Myotonic Dystrophy Protein Kinase (DMPK) mRNA as a Result of a Triplet Repeat Expansion in Myotonic Dystrophy

P Carango et al. Genomics.

Abstract

Myotonic dystrophy is an autosomally dominant inherited disease in which system-wide abnormalities are caused by a triplet repeat expansion within the 3' untranslated region of the myotonic dystrophy protein kinase (DMPK) gene. To determine the effect an expanded repeat region has on DMPK expression, we have separated the chromosome 19 homologues from a 36-year-old woman with myotonic dystrophy into different cell lines by way of somatic cell hybridization. Hybrid DM9101 contains the normal DMPK allele (13 repeats), whereas hybrid DM1115 harbors the mutant allele (approximately 133 repeats). Reverse transcription/polymerase chain reaction (RT/PCR) amplification of coding sequences from the DMPK gene has shown both reduced levels of primary DMPK transcripts and impaired processing of these transcripts in hybrid cell line DM1115. These findings suggest that the presence of a large number of repeats in the 3' untranslated region of the DMPK gene reduces both the synthesis and the processing of DMPK mRNA, resulting in undetectable levels of processed DMPK mRNA from the mutant allele.

Similar articles

See all similar articles

Cited by 25 PubMed Central articles

  • Cells of Matter- In Vitro Models for Myotonic Dystrophy
    M Matloka et al. Front Neurol 9, 361. PMID 29875732. - Review
    Myotonic dystrophy type 1 (DM1 also known as Steinert disease) is a multisystemic disorder mainly characterized by myotonia, progressive muscle weakness and wasting, cogn …
  • Antisense Therapy in Neurology
    JJ Lee et al. J Pers Med 3 (3), 144-76. PMID 25562650. - Review
    Antisense therapy is an approach to fighting diseases using short DNA-like molecules called antisense oligonucleotides. Recently, antisense therapy has emerged as an exci …
  • Myotonic Dystrophy Protein Kinase Is Critical for Nuclear Envelope Integrity
    EB Harmon et al. J Biol Chem 286 (46), 40296-306. PMID 21949239.
    Myotonic dystrophy 1 (DM1) is a multisystemic disease caused by a triplet nucleotide repeat expansion in the 3' untranslated region of the gene coding for myotonic dystro …
  • Development of Electrocardiogram Intervals During Growth of FVB/N Neonate Mice
    CR Heier et al. BMC Physiol 10, 16. PMID 20735846.
    We provide insight with a new level of detail to the natural course of heart rate establishment in neonate mice. ECG can now be conveniently and repeatedly used in neonat …
  • Regulatory RNAs in Brain Function and Disorders
    A Iacoangeli et al. Brain Res 1338, 36-47. PMID 20307503. - Review
    Regulatory RNAs are being increasingly investigated in neurons, and important roles in brain function have been revealed. Regulatory RNAs are non-protein-coding RNAs (npc …
See all "Cited by" articles

Publication types

MeSH terms

LinkOut - more resources

Feedback