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Updated: Mar 3, 2026

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Human diseases associated with connexin mutations

Miduturu Srinivas1, Vytas K Verselis2, Thomas W White3

  • 1Department of Biological and Vision Sciences, SUNY College of Optometry, New York, NY 10036, USA.

Biochimica Et Biophysica Acta. Biomembranes
|May 2, 2017
PubMed

Insights

Connexin mutations cause genetic disorders affecting cellular processes. Understanding these connexin channel defects is key to developing new therapies for related diseases.

Area of Science:

  • Cellular Biology
  • Molecular Medicine
  • Genetics

Background:

  • Gap junctions and hemichannels, formed by connexins, regulate crucial cellular functions.
  • Genetic mutations in connexins lead to various inherited disorders.
  • Connexin disorders exhibit non-compensatory and dominant-negative effects from mutated connexins.

Purpose of the Study:

  • To elucidate the functional roles of connexins in cellular processes.
  • To understand the mechanisms underlying connexin-related genetic diseases.
  • To identify potential therapeutic targets for connexin disorders.

Main Methods:

  • Review of existing literature on connexin function and mutations.
  • Analysis of genetic and functional studies of connexin disorders.
  • Exploration of cellular mechanisms affected by connexin channel dysfunction.

Main Results:

  • Connexin mutations disrupt normal cellular communication and function.
  • Mutated connexins interfere with wild-type connexin activity, hindering compensation.
  • Functional studies are revealing specific molecular mechanisms of disease contribution.

Conclusions:

  • Detailed understanding of connexin channel dysfunction is essential for disease pathology.
  • Mechanistic insights can drive the development of novel, pathophysiology-based therapies.
  • Targeting connexin channel mechanisms offers promise for treating diverse genetic disorders.
Keywords:
ConnexinGap junctionGenetic diseaseHemichannelMutation

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