Scientists at the University of California, Los Angeles (UCLA) have discovered that mutations in the TCF4 gene may be a causative agent of hereditary endothelial corneal Fuchs dystrophy (ECDF), a common cause of age-related vision loss. Research results It was published At EBioMedicine.
NEDF is a serious, inherited, progressive disease characterized by decreased endothelial cell density, increasing swelling of the cornea (the clear front part of the eye), and gradual deterioration of vision. Scientists say NEDF is a common reason for corneal transplantation in high-income countries and a common culprit of vision loss in old age.
To find out which genes play a role in the development of NEDF, the scientists collected corneal endothelial cell samples from individuals with the disease. The researchers then used advanced optical mapping of the genome (determining the position of a particular gene relative to its neighbors) with single-molecule precision. This allowed them to identify the genomic imbalances associated with Fuchs’ corneal endothelial dystrophy.
The results showed that the key factor in the development of this disease is an unstable and dynamic mutation of the specific CTG18.1 DNA sequence in the TCF4 gene, whose carriage increases the risk of developing NEDF in individuals of different age and gender groups.
Now the scientists plan to continue their research, setting out to determine the best time to implement therapeutic and preventive interventions that could halt the development of Fuchs’ hereditary endothelial corneal dystrophy.
Formerly a doctor It has been saidHow often do eye hemorrhages normally occur in the elderly?
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Source: Gazeta
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