Related Experiment Video
Updated: Jun 8, 2026
10:46
Mechanical Stimulation-induced Calcium Wave Propagation in Cell Monolayers: The Example of Bovine Corneal Endothelial Cells
Published on: July 16, 2013
Mutations in connexin genes and disease.
Anna Pfenniger1, Annelise Wohlwend, Brenda R Kwak
1Department of Pathology and Immunology, Faculty of Medicine, University of Geneva, Geneva, Switzerland.
European Journal of Clinical Investigation
|September 16, 2010
Summary
Mutations in connexin genes cause various diseases, impacting cell communication and tissue health. This review details connexin gene defects, cellular changes, and clinical symptoms for better understanding.
Area of Science:
- Molecular Biology
- Genetics
- Cell Biology
Background:
- Connexins are transmembrane proteins vital for cell-cell communication via gap junctions.
- They maintain tissue homeostasis by regulating ion and metabolite passage.
- Twenty-one human connexins exist, each with unique expression and regulation.
Purpose of the Study:
- To systematically review connexin gene mutations and associated human diseases.
- To correlate genetic defects with cellular phenotypes and clinical manifestations.
Main Methods:
- Searched PubMed and relevant databases for publications.
- Screened key review articles for original research.
- Photographed and annotated representative organ sections.
Main Results:
- Connexin gene mutations lead to diverse disorders including myelin diseases, skin conditions, hearing loss, cataracts, and oculodendrodigital dysplasia.
- The review systematically details connexin mutations, their impact on cellular function, and resulting clinical conditions.
Conclusions:
- Connexin gene mutations underscore the critical role of connexins in intercellular communication.
- Disruptions in connexin function significantly affect tissue homeostasis and human health.
Related Concept Videos
01:27Gap 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...
01:37Gap 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...
01:39Mutations
Overview
01:35Mutations
Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
01:43Sex-linked Disorders
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
01:33Pleiotropy
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...