Skip to main content

Age-Related Visual Loss

 Key mechanism behind common genetic cause of age-related visual loss discovered


Important insights into the mechanisms behind Fuchs endothelial corneal dystrophy (FECD), a common cause of age-related visual loss, have been revealed in a new study led by UCL researchers.

FECD is a common, inherited eye condition that primarily affects the cornea, the clear front part of the eye. It is one of the leading causes of vision loss as people age and is the most common reason for corneal transplants in high-income countries. FECD affects the corneal endothelial cells, which form a layer responsible for controlling fluid balance in the cornea. When these cells are lost more quickly than usual in people with FECD, the cornea becomes swollen and cloudy, leading to blurred vision.

The research, led by a team in Dr. Alice Davidson's Inherited Corneal Disease Lab at UCL Institute of Ophthalmology, has revealed how FECD progresses at a molecular level, and highlights the importance of understanding genetic instability—when cells have high frequency of mutations—in developing new treatments for FECD and diseases caused by similar genetic mutations, such as Huntington's disease and other neurological and neuromuscular diseases.

The study utilized advanced optical genome mapping with single-molecule precision where researchers found extreme levels of instability to identify how the disease progresses. These findings were exclusively in the corneal endothelial cells of individuals with FECD. The study also identified that both size and patient age influence instability rates.

Dr. Christina Zarouchlioti (UCL Institute of Ophthalmology), lead author, said, "We are excited to share these results and the impact they might have for the future of patients with FECD. We also know that the study's implications extend beyond FECD, positioning it as a valuable model for understanding a growing number of other diseases, such as Huntington's disease and myotonic dystrophies, which share similar mechanisms."

A key factor in developing FECD is the expansion of a specific DNA sequence within the TCF4 gene, called CTG18.1. This genetic change, known as a short tandem repeat expansion, has been identified as the most common risk factor for FECD across all studied populations.

Researchers are now focused on a new series of experiments to understand how this mechanism plays out throughout human development to better understand when may be the most effective time to therapeutically intervene.

Complement system, genetic mutations, macular degeneration, inflammatory responses, retina, photoreceptor cells, CFH gene, complement pathway, ARMS2 gene, HTRA1 gene, molecular pathways, age-related macular degeneration, targeted gene therapies, immunotherapies, oxidative stress, protein misfolding, chronic inflammation, retinal cell death, visual loss, genetic disease.

#ComplementSystem, #GeneticMutations, #MacularDegeneration, #Inflammation, #RetinalHealth, #PhotoreceptorCells, #CFHGene, #ComplementPathway, #ARMS2, #HTRA1, #MolecularMechanisms, #AMD, #GeneTherapy, #Immunotherapy, #OxidativeStress, #ProteinMisfolding, #ChronicInflammation, #RetinalDegeneration, #VisualLoss, #GeneticResearch

International Conference on Genetics and Genomics of Diseases 




For Enquiries: genetics@healthcarek.com 

Get Connected Here 
--------------------------------- 
--------------------------------- 

Comments

Post a Comment

Popular posts from this blog

Genetic factors with clinical trial stoppage

Genetic factors associated with reasons for clinical trial stoppage Many drug discovery projects are started but few progress fully through clinical trials to approval. Previous work has shown that human genetics support for the therapeutic hypothesis increases the chance of trial progression. Here, we applied natural language processing to classify the free-text reasons for 28,561 clinical trials that stopped before their endpoints were met. We then evaluated these classes in light of the underlying evidence for the therapeutic hypothesis and target properties. We found that trials are more likely to stop because of a lack of efficacy in the absence of strong genetic evidence from human populations or genetically modified animal models. Furthermore, certain trials are more likely to stop for safety reasons if the drug target gene is highly constrained in human populations and if the gene is broadly expressed across tissues. These results support the growing use of human genetics to ...
Post a Comment
Read more

Type of Inherited Blindness in Dogs

Genetic test could eradicate a type of inherited blindness in dogs A mountain rescue dog whose duties ended after her eyesight failed has helped scientists create a test that could eradicate the genetic eye condition in her breed for good. Shola the English shepherd has an inherited eye disease called progressive retinal atrophy (PRA) that causes the light-sensitive cells at the back of the eye to deteriorate, eventually leading to blindness. PRA affects more than 100 dog breeds, can be caused by a number of different genetic variants and has no treatment. For some types, symptoms do not appear until the dog is several years old , by which point they may have passed their genes on to puppies. Katherine Stanbury, the first author of the research from the University of Cambridge, said Shola was four years old when she began struggling with her vision in dim light. “She was sent to a veterinary ophthalmologist and they confirmed that she had PRA,” said Stanbury. “And then it turned out h...
Post a Comment
Read more

Post-Stroke Cardiovascular risks

Study finds genetic factors key to post-stroke cardiovascular risks In a recent study published in the journal Stroke , researchers identify genetic and molecular risk factors for subsequent cardiovascular outcomes after incident stroke in an effort to identify potential therapeutic targets to improve patient prognoses. Identifying the causes of stroke Stroke is a major global health issue that causes significant disability and mortality, particularly arterial ischemic stroke (AIS). AIS, which is a type of stroke caused by blocked blood flow to the brain, is responsible for up to 85% of stroke cases. AIS arises due to cerebral blood vessel blockage, with modifiable risk factors including hypertension, diabetes, dyslipidemia, atrial fibrillation, obesity, and lifestyle behaviors. Although genome-wide association studies (GWAS) often focus on incident strokes, studying subsequent events can provide new insights into stroke progression. Further research is crucial to identify genetic and...
Post a Comment
Read more