Fuchs corneal dystrophy, a genetic disorder that necessitates corneal transplant operations could be caused by a gene identified in a new study.
A 13-member research team led by University of Oregon scientist Dr. Albert O. Edwards performed a genome-wide analysis comparing patients with and without typical age-related Fuchs, finding an alteration in the transcription-factor-4 gene (TCF4). Fuchs -- pronounced FEWKS or FOOKS -- generally emerges in middle-aged, roughly age 40, and older people.
Genetic Testing of Diseases
Genetic testing helps to confirm a genetic condition in an individual and involves q complex laboratory techniques
Advertisement
Fuchs emerges slowly with blurred or cloudy vision, tiny bumps known as guttae (GOO-tay) on the cornea's surface and, in severe stages, painful blisters on the corneal surface.
Having the TCF4 gene variation has a huge impact on the risk of Fuchs disease, said Edwards, a senior research associate in the University of Oregon's Institute of Molecular Biology.
![Anatomy of the Eye - Animation]( "Anatomy of the Eye - Animation")
Interactive section of Medindia gives details regarding anatomy of the Eye
"It vastly exceeds the risk found previously for the complement-factor-H gene in macular degeneration," he said.
"If a person has risk variants involving TCF4, that individual is anywhere from several to a couple of hundred times more likely to have Fuchs disease."
While the TCF4 gene has been identified, exactly what occurs to cause a defect is not understood. The researchers found evidence that at least one transcription protein, E2-2, needs more scrutiny.
ZEB1, which may be regulated by E2-2, already is thought to contribute to Fuchs.
The study involved the genotyping of 280 Fuchs patients recruited in clinical settings in Minnesota and Michigan. These patients had at least Stage 1 signs of Fuchs or had received corneal replacements as a result of the disease. Their genomes were compared with 410 control patients.
Three other genes previously had been linked to very rare subtypes of Fuchs. In addition, early onset Fuchs has been linked to mutations in yet another gene, COL8A2, but Edwards and colleagues suggest in their paper that this may be a different disease with a different cause.
The discovery has been published in the New England Journal of Medicine.
Source: ANI
Anatomy of the Eye - Animation
Interactive section of Medindia gives details regarding anatomy of the Eye
Advertisement
"It vastly exceeds the risk found previously for the complement-factor-H gene in macular degeneration," he said.
"If a person has risk variants involving TCF4, that individual is anywhere from several to a couple of hundred times more likely to have Fuchs disease."
While the TCF4 gene has been identified, exactly what occurs to cause a defect is not understood. The researchers found evidence that at least one transcription protein, E2-2, needs more scrutiny.
ZEB1, which may be regulated by E2-2, already is thought to contribute to Fuchs.
The study involved the genotyping of 280 Fuchs patients recruited in clinical settings in Minnesota and Michigan. These patients had at least Stage 1 signs of Fuchs or had received corneal replacements as a result of the disease. Their genomes were compared with 410 control patients.
Three other genes previously had been linked to very rare subtypes of Fuchs. In addition, early onset Fuchs has been linked to mutations in yet another gene, COL8A2, but Edwards and colleagues suggest in their paper that this may be a different disease with a different cause.
The discovery has been published in the New England Journal of Medicine.
Source: ANI
Blind And Sighted People Can Divide Living And Non-Living Processing In The Same Way!
Even in people who have been blind since birth, the brain separates the concepts of living and non-living objects, shows a new study.
Advertisement
 Corneal Transplant Success Rate Can be Boosted by New Treatment ApproachFindings from a new study suggest a new treatment approach that could improve corneal translant success rates. | Advertisement
|
Advertisement
Recommended Readings
Latest Genetics & Stem Cells News
Groundbreaking gene therapy for genetic beta thalassemia is now accessible as a treatment to a patient post-FDA approval.
Thymic stem cells actively participate in their environment by generating extracellular matrix proteins, essentially forming their own support system.
Scientists aspire to utilize stem cell transplantation for pediatric patients grappling with blood-related conditions like aplastic anemia, and thalassemia.
Researchers have sequenced male Y chromosomes, yielding a comprehensive blueprint of the entire human chromosome collection.
CALEC (Cultivated autologous limbal epithelial cells) procedure for stem cell transplant in eye procedures is safe and feasible, showing improved corneal surfaces or vision.
