This section has been involved in a number of different to study inherited visual diseases affecting the lens and the retina.
One approach to understanding inherited visual diseases uses principles of positional cloning to identify genes important in human inherited diseases. Such diseases currently undergoing linkage analysis, gene isolation, or characterization of mutations include Usher syndrome, retinitis pigmentosa, inherited cataracts, Bietti crystalline dystrophy, and a number of corneal dystrophies.
A second approach is to attempt to establish associations between sequence changes in candidate genes and specific phenotypes. This type of study is most applicable to prevalent diseases with a complex inheritance pattern, and is currently being used for age related cataracts.
Once a candidate gene has been identified and confirmed, the biochemical and pathophysiological implications of identified mutations are explored both in vitro through recombinant expression of native and mutant proteins and in vivo through transgenic expression of pathological proteins. To date, most of these studies have involved mutations in the lens crystallins. Lens crystallins make up more than 90 percent of the soluble protein of lens and are heavily modified in most cataracts. The effects that specific modifications of and crystallin structure produce on crystallin function such as stability, resistance to damage by ultraviolet light, and formation of macromolecular aggregates are being studied. Regions of the beta-crystallin molecule of special interest include the amino and carboxy terminal arms, the connecting peptide and the Greek key motifs of the core domains. In addition, the interactions of acidic and basic-crystallins are being studied.
|J. Fielding Hejtmancik, M.D., Ph.D.
||Section Chieffirstname.lastname@example.org||(301) 496-8300|
|Xiaodong Jiao||Biologistemail@example.com||(301) 435-2586|
|Anren Li||Biologist||Anren@intra.nei.nih.gov||(301) 496-8300|
|ZhiweiMa||Staff Scientistfirstname.lastname@example.org||(301) 496-8300|
Last Reviewed: September 2012