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Related Concept Videos

Catenins01:23

Catenins

Catenins are characterized by multiple binding domains and dynamic structures that allow them to function as linker proteins in cell junction complexes. All catenins, except α-catenin, contain a characteristic protein sequence called the armadillo repeat and are therefore also called armadillo proteins.
Catenins in Cell Junctions
Catenins bind to cell adhesion molecules such as cadherins and link them to different cytoskeletal proteins depending on the type of cell junction. At the adherens...
Gap Junctions01:27

Gap Junctions

The cytoplasm of adjacent animal cells can exchange small molecules, ions, and secondary messengers via the communication channels which form the gap junctions. These junctions comprise a few hundred to thousands of molecular channels, each made of two halves, called the connexon hemichannel. A connexon is a hexamer of six transmembrane connexin proteins, which assemble radially, thus forming a pore or channel in the center. One connexon hemichannel docks with a corresponding connexon on the...
Gap Junctions01:37

Gap Junctions

Multicellular organisms employ a variety of ways for cells to communicate with each other. Gap junctions are specialized proteins that form pores between neighboring cells in animals, connecting the cytoplasm between the two, and allowing for the exchange of molecules and ions. They are found in a wide range of invertebrate and vertebrate species, mediate numerous functions including cell differentiation and development, and are associated with numerous human diseases, including cardiac and...
Cohesins02:20

Cohesins

Cohesin protein complexes are a molecular glue that holds two sister chromatids together. They play an important role both in mitosis and meiosis. In mitosis, all cohesin complexes present on the chromosomes are removed before the start of the anaphase stage.
Cohesin complexes in Meiotic Division
Meiosis involves two distinct rounds of chromosomal segregation and cell divisions— Meiosis I followed by Meiosis II – producing four daughter cells. Meiosis I includes the separation of homologous...
Condensins02:15

Condensins

Condensins are large protein complexes that use ATP to fuel the assembly of chromosomes during mitosis. They transform the tangled, shapeless mass of post-interphase DNA into individualized chromosomes by compacting, organizing, and segregating chromosomal DNA.
The plant and animal cells contain two types of condensin complexes—condensin I and condensin II. Both complexes have five subunits: two SMC (Structural Maintenance of Chromosomes) subunits, a kleisin subunit, and two HEAT-repeat...

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RNA Isolation from Mouse Ocular Lens Epithelium and Fiber Cell Bulk Masses
06:07

RNA Isolation from Mouse Ocular Lens Epithelium and Fiber Cell Bulk Masses

Published on: October 10, 2025

Connexin mutants and cataracts.

Eric C Beyer1, Lisa Ebihara, Viviana M Berthoud

  • 1Department of Pediatrics, University of Chicago Chicago, IL, USA.

Frontiers in Pharmacology
|April 19, 2013
PubMed
Summary
This summary is machine-generated.

Mutations in lens connexin genes (GJA3 and GJA8) cause cataracts by disrupting cell communication or leading to cell damage. Understanding these mechanisms is key to developing treatments for this common vision impairment.

Keywords:
cataractconnexin46connexin50gap junctionlens

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Area of Science:

  • Ophthalmology
  • Cell Biology
  • Genetics

Background:

  • The eye's lens must remain transparent for clear vision, but damage can lead to cataracts.
  • Lens transparency relies on a network of gap junctions, primarily composed of connexin46 and connexin50.
  • Mutations in the genes encoding these connexins (GJA3 and GJA8) are linked to inherited cataracts.

Purpose of the Study:

  • To investigate the disease mechanisms underlying inherited cataracts caused by mutations in lens connexin genes.
  • To understand how connexin mutations affect intercellular communication and lens cell survival.

Main Methods:

  • In vitro expression studies of connexin mutants.
  • Analysis of channel function, cellular trafficking, and hemichannel activity.
  • Investigation of cytoplasmic accumulation formation.

Main Results:

  • Connexin mutants exhibit diverse abnormalities, including reduced intercellular communication via altered channel function or impaired trafficking.
  • Some mutants display gain of hemichannel function, leading to cell injury and death.
  • Other mutants form cytoplasmic accumulations that may scatter light, contributing to opacity.

Conclusions:

  • Lens connexin mutations can cause cataracts through multiple mechanisms, including impaired cell communication and direct cell injury.
  • These findings enhance our understanding of cataract development and connexin-related diseases in other tissues.
  • Further research will elucidate the precise roles of these mutations in vision impairment.