Deafness, Skin Disease & Cataract

Thomas W. White, Ph.D., Professor
Department of Physiology & Biophysics 
School of Medicine, Stony Brook University 

Overview:

Connexins

Connexin proteins (red) are found at the interfaces between epithelial cells (nuclei are blue).
Our research focuses on the intercellular communication provided by gap junction channels, how it is regulated by intracellular signaling cascades, and the human diseases that result from mutations in the genes encoding both the gap junction proteins, called connexins (Cx), and the signaling molecules that regulate their channel activity. Gap junctional communication plays important roles in many aspects of tissue homeostasis, a view supported by the association of connexin mutations with many human genetic diseases such as deafness, skin diseases and cataracts. Our general approach has been to study the consequences of disease causing mutations on the functional behavior of gap junction channels using in vitro assays of channel permeation and gating followed by the generation of genetically engineered mice where genes have been deleted or mutated to create models of human disease.

Gap junction communication

Gap junctions allow cells to directly share small molecules like the fluorescent dye (green) injected into a single central cell that rapidly diffuses into neighboring cells through connexin channels present in gap junctions (cell nuclei are blue).


Current Projects:

A transgenic mouse model of Keratitis Ichthyosis Deafness (KID) syndrome (caused by mutations in Cx26).

A transgenic mouse model of cataract associated with PTEN hamartoma tumor syndrome (PHTS).