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Mutagenesis and Functional Analysis of Ion Channels Heterologously Expressed in Mammalian Cells
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Mutagenesis and Functional Analysis of Ion Channels Heterologously Expressed in Mammalian Cells

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Alternative paradigms for ion channelopathies: disorders of ion channel membrane trafficking and posttranslational

Jerry Curran1, Peter J Mohler

  • 1The Dorothy M. Davis Heart & Lung Research Institute.

Annual Review of Physiology
|October 9, 2014
PubMed

Insights

Channelopathies, disorders of ion channel function, can arise from genetic mutations or issues in protein synthesis, trafficking, and modifications. This review explores these alternative causes beyond direct channel defects.

Area of Science:

  • Molecular biology
  • Physiology
  • Genetics

Background:

  • Channelopathies are disorders linked to ion channel or transporter dysfunction.
  • Most are caused by inherited mutations affecting ion channel biophysics.
  • Emerging evidence points to disorders arising from altered protein synthesis, trafficking, or modifications.

Purpose of the Study:

  • To review alternative mechanisms underlying channelopathies.
  • To focus on disorders related to protein biosynthesis, folding, trafficking, and membrane retention.
  • To highlight the role of posttranslational modifications in acquired channelopathies.

Main Methods:

  • Literature review of channelopathies.
  • Analysis of disorders not directly caused by ion channel mutations.
  • Focus on protein processing and regulatory protein dysfunction.

Main Results:

  • Identified channelopathies linked to protein synthesis, folding, and trafficking.
  • Highlighted disorders stemming from ion channel regulatory protein dysfunction.
  • Emphasized the role of aberrant posttranslational modifications in acquired channelopathies.

Conclusions:

  • Channelopathies encompass a broader range of molecular defects than previously recognized.
  • Protein processing and regulatory mechanisms are critical for ion channel function.
  • Understanding these alternative pathways is crucial for diagnosing and treating channelopathies.
Keywords:
arrhythmiacytoskeletonheart failurephosphorylationprotein traffickingtargeting

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