Scientists from the University of Electronic Science and Technology in China discovered that mutations in the EMC1 gene can increase the risk and severity of an eye disease known as familial exudative vitreoretinopathy. In this respect reports MedicalXpress.
Familial exudative vitreoretinopathy is an inherited vascular disease that affects the growth and development of blood vessels in the retina. This disease can lead to visual impairment and sometimes complete blindness.
Scientists managed to find out that mutations in the EMC1 gene can lead to malfunction of the protein of the same name, which leads to defects in the vessels of the retina, a decrease in the density of their walls and a slowdown in growth. EMC1 enzyme is found in endothelial cells. Endothelium is the tissue that lines the inside of blood vessels and allows free blood flow.
Some types of mutations in the EMC1 gene are genetically inherited. This means that people who have relatives with exudative vitreoretinopathy have a higher risk of developing this disease. Further research is needed to determine exactly how EMC1 should be modified to reverse failures in retinal vascular formation.
The study may lead to new therapeutic treatments for familial exudative vitreoretinopathy and other vascular defects.
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