Serial Analysis of Gene Expression in the Corneal Endothelium of Fuchs’ Dystrophy

Abstract

SAGE analysis comparing normal to Fuchs' endothelium demonstrates diminished expression of mitochondrial, pump function, and antiapoptotic cell defense genes.

Human SLC4A11 Is a Novel NH3/H+ Co-transporter

“…Several SLC4A11 mutations have been implicated in the pathogenesis of Fuchs endothelial corneal dystrophy, congenital hereditary endothelial dystrophy, and Harboyan syndrome (corneal dystrophy with perceptive deafness) (4,5). Three strains of SLC4A11 knock-out mice exhibited variable phenotypes that included corneal endothelial dysfunction, perceptive deafness, and polyuria or low urine osmolality (6 -8).…”

Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)

“…One of these, SLC4A11, encodes bicarbonate transporter-related protein-1 (BTR1) and is considered unique among members of the SLC4 bicarbonate transporter family [6][7][8] . Comparative SAGE analysis of gene expression profiles in normal and Fuchs' human corneal endothelium has shown that SLC4A11 was downregulated in the cornea of Fuchs patients 9 . We confirmed its expression in the corneal endothelium by RT-PCR ( Supplementary Fig.…”

Polymorphisms of the Apoptosis-Related FAS and FAS Ligand Genes in Keratoconus and Fuchs Endothelial Corneal Dystrophy

“…Because corneal endothelial cells are arrested in a postmitotic state, they are susceptible to ROS-induced apoptosis in response to aging and oxidative stress (Cho et al 1999;Joyce et al 2009). Furthermore, genetic analysis of CECs show decreased expression of anti-apoptotic genes (Gottsch et al 2003). Results of several studies suggest that apoptosis is a primary pathway of cell death in KC (Kaldawy et al 2002).…”

“…Both association and linkage studies showed that a polymorphism in the transcription factor 4 (TCF4) gene was associated with FECD (Baratz et al 2010;Li et al 2011). Apoptosis was shown to be involved in the pathogenesis of KC and FECD (Mohan et al 1997;Cho et al 1999;Kim et al 1999;Borderie et al 2000;Li et al 2001;Kaldawy et al 2002;Gottsch et al 2003;Szentmáry et al 2005;Joyce et al 2009;Engler et al 2010;Jurkunas et al 2010). It was also shown that the FAS/FASLG system is expressed in the cornea and might have important functions in normal corneal physiology and in the pathophysiology of corneal diseases, including modulation of keratocyte apoptosis after epithelial injury (Wilson et al 1996).…”