A study with researchers from Andalusian Center for Developmental Biology (CABD) has allowed us to identify differences associated with specific gene activation involved in inherited retinal disorderswhich delves into the causes and treatment of the most widespread blindness in Europe.
As reported this Monday andl Higher Center for Scientific Research (CSIC)hereditary retinal diseases represent the biggest cause of blindness on the European continent, a problem that affects 350,000 people.
These diseases have been considered incurable for a long time since vision loss due to these conditions was thought to be irreversible. However, recently there has been great interest in the advancement of novel treatments in this areaso several research groups interested in these diseases have come together in a european network to know more about this type of pathologies.
Correct vision depends on the interaction between two components that make up the retina: the neural retina and the pigmented epithelium.
Although progressive blindness finally converges on degeneration of the so-called ‘photoreceptors’are frequently associated with the gene activation exclusively in one of the two components.
In the last decade, it has been shown that gene activity is regulated by three-dimensional structure of the genome. At work, has compared that three-dimensional structure of the genomes of the neural retina and the pigmented epithelium, which has allowed the identification of differences associated with specific gene activation implicated in inherited retinal disorders.
Until recently, the genetic study of this type of diseases focused on alterations in the so-called “coding” regionsthat is, the areas of the genome that they house the genes that give rise to proteins. The problem is that many of the patients there are no variations in these regionssuggesting structural failures in the genome as a potential cause of these pathologies.
The data analyzed in this project helps define the regulatory landscapes of genes expressed in the neural retina and pigment epithelium compartments in humans.
These conclusions offer a reference “very important” to predict possible hereditary structural variants that help in certain cases to understand the molecular basis of his blindness and improve the genetic counseling in family members who have not yet developed the pathology.
* News prepared with information from Agencia EFE.
