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Related Experiment Videos

Painful channels.

William A Catterall1, Frank H Yu

  • 1Department of Pharmacology, University of Washington, Seattle, Washington 98195, USA.

Neuron
|December 6, 2006
PubMed
Summary
This summary is machine-generated.

Paroxysmal extreme pain disorder (PEPD) is an inherited condition causing severe pain and flushing. Mutations in the SCN9A gene, encoding the Na(V)1.7 sodium channel, are identified as the cause.

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Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • Paroxysmal extreme pain disorder (PEPD), formerly familial rectal pain (FRP), is a rare inherited neurological disorder.
  • PEPD is characterized by episodes of intense burning pain in the rectal, ocular, and submandibular regions, often accompanied by flushing.

Discussion:

  • Fertleman et al. identify mutations in the SCN9A gene as the underlying cause of PEPD.
  • The SCN9A gene encodes the voltage-gated sodium channel Na(V)1.7, crucial for pain signal transmission.
  • This finding links PEPD directly to the function of Na(V)1.7 channels in nociception.

Key Insights:

  • Mutations in SCN9A are definitively linked to Paroxysmal extreme pain disorder.
  • Na(V)1.7 sodium channels play a critical role in transmitting pain signals.

Related Experiment Videos

  • This discovery highlights Na(V)1.7 as a potential therapeutic target for inherited pain syndromes.

    • Outlook:

    • Further research into Na(V)1.7 channel function may reveal new strategies for managing chronic pain.
    • Understanding SCN9A mutations can inform the development of targeted pain therapies.
    • This work advances the understanding of genetic contributions to pain disorders.