Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Intergenerational stability of the myotonic dystrophy protomutation

J M Barceló1, M S Mahadevan, C Tsilfidis

  • 1Department of Microbiology and Immunology, University of Ottawa, Ontario, Canada.

Human Molecular Genetics
|June 1, 1993
PubMed
Summary

The CTG repeat expansion in myotonic dystrophy (DM) shows a protomutation stage. This early-stage mutation stably transmits, correlating with next-generation amplification and explaining DM

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

IGF2BP1 controls cell death and drug resistance in rhabdomyosarcomas by regulating translation of cIAP1.

Oncogene·2014
Same author

GPR35 as a Novel Therapeutic Target.

Frontiers in endocrinology·2012
Same author

cIAP1 and cIAP2 limit macrophage necroptosis by inhibiting Rip1 and Rip3 activation.

Cell death and differentiation·2012
Same author

SMG1 and NIK regulate apoptosis induced by Smac mimetic compounds.

Cell death & disease·2011
Same author

IAP-targeted therapies for cancer.

Oncogene·2008
Same author

Both cIAP1 and cIAP2 regulate TNFalpha-mediated NF-kappaB activation.

Proceedings of the National Academy of Sciences of the United States of America·2008

Area of Science:

  • Genetics
  • Molecular Biology
  • Human Disease Genetics

Background:

  • Myotonic dystrophy (DM) is characterized by CTG trinucleotide repeat amplification.
  • Repeat expansion correlates with disease severity and phenotype.
  • The earliest stage of mutation, the 'protomutation,' presents with mild clinical signs.

Purpose of the Study:

  • To investigate the intergenerational stability and amplification patterns of the DM CTG protomutation.
  • To determine the relationship between protomutation length and subsequent repeat expansion in offspring.
  • To elucidate the role of the protomutation in the population maintenance of DM.

Main Methods:

  • Analysis of 536 DM mutation carriers from 158 families.
  • Identification of 60 DM-parent/DM-offspring pairings where the parent carried the protomutation.

Related Experiment Videos

  • Correlation analysis of protomutation length and offspring repeat amplification.

    • Main Results:

    • A strong correlation exists between the length of the protomutation in parents and the amplified repeat size in their offspring.
    • The protomutation demonstrates stable transmission across successive generations.
    • Protomutation stability contributes to the persistence of DM in the population.

    Conclusions:

    • The protomutation is a key factor in the intergenerational amplification of CTG repeats in DM.
    • Stable transmission of the protomutation facilitates the inheritance of DM.
    • Understanding protomutation dynamics is crucial for comprehending DM's genetic architecture and population prevalence.