Insights into the Role of Cell–Cell Junctions in Physiology and Disease - International Review of Cell and Molecular Biology - page 196

Table 5.1 Cell junctions and human diseases—cont'd
Junction
component Disease phenotype

Gap junctions
Connexin 26 (CX,
GJB)

Bart-Pumphrey syndrome, deafness, hystrix-like ichthyosis,
Vohwinkel syndrome
Keratitis-ichthyosis-deafness syndrome, keratoderma,
palmoplantar, with deafness

Connexin 30 Clouston's syndrome, nonsyndromic deafness

Connexin 31 Erythrokeratoderma variabilis, peripheral neuropathy, and

hearing impairment
Nonsyndromic deafness

Connexin 32 Charcot-Marie-Tooth disease (X-linked)

Connexin 40 Atrial fibrillation

Connexin 43 Oculodentodigital dysplasia, nonsyndromic deafness

Connexin 46 Zonular pulverulent cataract-3

Connexin 50 Zonular pulverulent cataract-1

A small sampling of junctional-associated diseases shows a wide diversity of conditions as well as a large
variety of tissues affected. Some of the diseases are discussed in the text; the rest were found in the publicly
accessible “Online Mendelian Inheritance in Man” online.

disorders can be found at Online Mendelian Inheritance in Man, created by
collaboration between the National Library of Medicine and the Johns
Hopkins University ( Hamosh et al., 2005; McKusick, 2007 ).
Even with the abridgment of junctional disease discussion, cancer research
is described in its own section given the volume of literature devoted to this
class of disease. For example, a study demonstrated decreasedmutual adhesive-
ness among tumor cells—just one aspect of cell-cell interactions. Now, the
question of how defects in intercellular adhesion may contribute to the devel-
opment and progression of cancer is an active field ( Brugmans et al., 1978;
Takeichi, 1991 ). It is thought, then, that defects in cell junctions and the asso-
ciated signaling pathways play critical roles in the pathogenesis of cancer.

4.2. Junctions in noncancerous diseases
4.2.1 Adherens junctions
Tissues are variable in their sensitivity to cadherin defects. About two dozen
cadherin mutations have been implicated in inherited human diseases