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

Altered gene silencing and human diseases.

G Perini1, R Tupler

  • 1Department of Biology, University of Bologna, Italy.

Clinical Genetics
|February 3, 2006
PubMed
Summary

Epigenetic gene silencing alterations contribute to inherited diseases like Rett syndrome and facioscapulohumeral muscular dystrophy. Deregulation of epigenetic mechanisms, alongside genetic changes, drives disease development and progression.

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

Multifunctional scaffolds for biomedical applications: Crafting versatile solutions with polycaprolactone enriched by graphene oxide.

APL bioengineering·2024
Same author

Deep learning for MYC binding site recognition.

Frontiers in bioinformatics·2022
Same author

Different types of abstract concepts: evidence from two neurodegenerative patients.

Neurocase·2021
Same author

Corrigendum to: "Transcriptional and epigenetic analyses of the DMD locus reveal novel cis-acting DNA elements that govern muscle dystrophin expression". [Biochim. Biophys. Acta Gene Regul. Mech. 2017 Nov;1860(11):1138-1147.].

Biochimica et biophysica acta. Gene regulatory mechanisms·2020
Same author

Corrigendum to: "MAX to MYCN intracellular ratio drives the aggressive phenotype and clinical outcome of high risk neuroblastoma" [Biochim. Biophys. Acta, Gene Regul. Mech. 1861 (2018) 235-245].

Biochimica et biophysica acta. Gene regulatory mechanisms·2020
Same author

Graphene oxide touches blood: in vivo interactions of bio-coronated 2D materials.

Nanoscale horizons·2020

Area of Science:

  • Genetics
  • Molecular Biology
  • Epigenetics

Background:

  • Epigenetic regulation controls gene expression via DNA methylation, histone modifications, and RNA interference.
  • Deregulation of these epigenetic mechanisms, in conjunction with genetic alterations, plays a role in various Mendelian disorders.

Purpose of the Study:

  • To summarize recent findings on how altered gene silencing contributes to specific inherited diseases.
  • To highlight the role of epigenetic deregulation in the pathogenesis of Mendelian disorders.

Main Methods:

  • Review of recent scientific literature and findings.
  • Analysis of mechanisms of epigenetic gene silencing.

Main Results:

  • Specific inherited diseases, including Rett syndrome, Immunodeficiency-centromeric instability-facial anomalies syndrome, and facioscapulohumeral muscular dystrophy, are linked to altered gene silencing.
  • Epigenetic deregulation is a cooperating factor with genetic alterations in disease development.

Conclusions:

  • Altered epigenetic gene silencing is a key factor in the development and progression of several inherited Mendelian disorders.
  • Understanding these epigenetic mechanisms is crucial for studying diseases like Rett syndrome and facioscapulohumeral muscular dystrophy.

Related Experiment Videos