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Related Experiment Videos

Genes that regulate neuronal migration in the cerebral cortex.

K M Allen1, C A Walsh

  • 1Department of Neurology, Harvard Medical School, Beth Israel Deaconess Medical Center, Harvard Institutes of Medicine, Boston, MA 02115, USA.

Epilepsy Research
|October 9, 1999
PubMed
Summary
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Mutations in the doublecortin (DCX) gene cause Double Cortex/X-linked lissencephaly (DC/XLIS), leading to brain malformations and epilepsy. DCX may function in neuronal migration signaling pathways.

Area of Science:

  • Neuroscience
  • Developmental Biology
  • Genetics

Background:

  • Malformations of cortical development are linked to mental retardation and epilepsy.
  • Understanding molecular signals controlling neuronal development is crucial for elucidating disease pathogenesis.
  • Double Cortex (DC) and X-linked lissencephaly (XLIS) are human conditions characterized by abnormal cortical development.

Purpose of the Study:

  • To identify genes involved in normal cerebral cortical development.
  • To investigate the genetic basis of Double Cortex/X-linked lissencephaly (DC/XLIS).
  • To explore the cellular function of the doublecortin (DCX) gene.

Main Methods:

  • Genetic analysis of DC/XLIS patients.
  • Sequence analysis of the doublecortin (DCX) gene.

Related Experiment Videos

  • Comparison with mouse models like the scrambler mutant.

    • Main Results:

    • A novel brain-specific gene, doublecortin (DCX), was identified and found to be mutated in DC/XLIS patients.
    • Sequence analysis suggests DCX is a cytoplasmic signaling molecule involved in neuronal migration.
    • The scrambler mouse mutation in mdab1, which binds c-Abl, shows similarities to lissencephaly, suggesting a potential common pathway.

    Conclusions:

    • Mutations in DCX are implicated in Double Cortex and X-linked lissencephaly.
    • DCX likely plays a critical role in neuronal migration during brain development.
    • Abnormalities in signal transduction pathways involving DCX and mDab1 may underlie neuronal migration defects and cortical malformations.