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Related Concept Videos

Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
Sex Linked Disorders01:43

Sex Linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Translation01:31

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation01:31

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.

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Related Experiment Video

Updated: Jul 15, 2026

Electrophoretic Analysis of Replication Through Structure-Prone DNA Repeats Within the SV40-Based Human Episome
05:22

Electrophoretic Analysis of Replication Through Structure-Prone DNA Repeats Within the SV40-Based Human Episome

Published on: September 13, 2024

Trinucleotide repeat disorders.

Harry T Orr1, Huda Y Zoghbi

  • 1Institute of Human Genetics, Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, Minnesota 55455, USA. orrxx002@umn.edu

Annual Review of Neuroscience
|April 10, 2007
PubMed
Summary

Expansion of unstable DNA repeats causes neurological disorders like Huntington disease. Studying these dynamic mutations offers insights into neurobiology and potential therapeutic targets.

Area of Science:

  • Genetics and Molecular Biology
  • Neuroscience
  • Cell Biology

Background:

  • Unstable DNA repeat expansions are linked to various neurological disorders, including mental retardation, Huntington disease, inherited ataxias, and muscular dystrophy.
  • The dynamic nature of these repeat expansions explains variable expressivity observed within families.
  • Research into these disorders has yielded significant insights into fundamental biological processes.

Purpose of the Study:

  • To explore the impact of unstable repeat expansions on neurological disorders.
  • To highlight the broader biological insights gained from studying these genetic conditions.
  • To identify potential therapeutic targets emerging from pathogenesis research.

Main Methods:

  • The abstract does not detail specific experimental methods.

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A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
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A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

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  • Focuses on the conceptual framework and implications of studying repeat expansion disorders.
  • Literature review and synthesis of existing research findings.

    • Main Results:

    • Discovery of unstable repeat expansions as a cause for numerous neurological disorders.
    • Understanding the mechanism of variable phenotype expressivity due to dynamic mutations.
    • Elucidation of the roles of translational control, RNA processing, and protein conformation in disease pathogenesis.
    • Identification of cellular energy mechanisms involving Fe-S clusters.

    Conclusions:

    • Studies on repeat expansion disorders have profoundly impacted disease-oriented research and our understanding of neurobiology and cell biology.
    • These investigations have revealed critical cellular pathways and mechanisms relevant to neuronal and muscle function.
    • Emerging insights into pathogenesis are paving the way for potential therapeutic strategies within a 15-year timeframe.