Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.

ABSTRACT: Gene mutations that encode retinoschisin (RS1) cause X-linked retinoschisis (XLRS), a form of juvenile macular and retinal degeneration that affects males. RS1 is an adhesive protein which is proposed to preserve the structural and functional integrity of the retina, but there is very little evidence of the mechanism by which protein changes are related to XLRS disease. Here, we report molecular modeling of the RS1 protein and consider perturbations caused by mutations found in human XLRS subjects. In 60 XLRS patients who share 27 missense mutations, we then evaluated possible correlations of the molecular modeling with retinal function as determined by the electroretinogram (ERG) a- and b-waves. The b/a-wave ratio reflects visual-signal transfer in retina. We sorted the ERG b/a-ratios by

SUBMITTER: Sergeev YV 

PROVIDER: S-EPMC2838538 | biostudies-literature | 2010 Apr

REPOSITORIES: biostudies-literature