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IT15 gene expression in fetal human brain

L S Dure1, G B Landwehrmeyer, J Golden

  • 1Department of Neurology, Massachusetts General Hospital, Boston 02114.

Brain Research
|October 3, 1994
PubMed
Summary
This summary is machine-generated.

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The gene responsible for Huntington's disease (HD), IT15, is expressed throughout the developing and adult human brain. This suggests a potential role in early development, prior to 20 weeks gestation.

Area of Science:

  • Neuroscience
  • Developmental Biology
  • Genetics

Background:

  • Huntington's disease (HD) is a neurodegenerative disorder caused by mutations in the IT15 gene.
  • Understanding the developmental expression of IT15 is crucial for elucidating its role in HD pathogenesis.

Purpose of the Study:

  • To investigate the expression pattern of the IT15 gene in the developing and adult human brain.
  • To determine if IT15 expression correlates with neuronal or glial cell populations.
  • To assess IT15 expression in relation to HD-affected brain regions and developmental stages.

Main Methods:

  • In situ hybridization using radiolabeled riboprobes on human fetal (20-23 weeks gestation) and adult brain tissue.
  • Quantification of autoradiographic signal density and comparison with regional cell density.

Related Experiment Videos

  • Assessment of acetylcholinesterase activity in fetal striatum to evaluate regional specificity.

    • Main Results:

    • IT15 gene expression was detected in all examined regions of both fetal and adult human brains.
    • A strong correlation between IT15 signal and cell number was observed, except in the fetal germinal matrix and adult white matter, suggesting predominantly neuronal expression.
    • No differential IT15 expression was found in fetal striatal compartments or in brain regions typically affected by HD.
    • IT15 expression is present by 20 weeks gestation with a distribution pattern similar to adults.

    Conclusions:

    • The IT15 gene is widely expressed in the human brain by 20 weeks gestation, with a distribution pattern resembling that of the adult brain.
    • The predominantly neuronal expression of IT15 suggests a role in neuronal function throughout development.
    • If IT15 has a developmentally regulated role in HD pathogenesis, it likely manifests before 20 weeks gestation.