A collaboration between scientists from the Garvan Institute of Medical Research, the University of Melbourne, the Center for Eye Research Australia, and the University of Tasmania's Menzies Institute for Medical Research discovered new genetic signatures of age-related macular degeneration that could help develop better diagnosis and treatment methods.
The team created models of diseased eye cells using reprogrammed stem cells to analyze DNA, RNA, and proteins that held genetic clues to the disease, Science Daily reported.
Joint lead author Professor Joseph Powell said they could identify specific types of genetic markers of the disease, which is the basis of precision medicine where therapeutics might be effective for a person's genetic profile of the disease.
Better Diagnosis, Treatment for Age-Related Macular Degeneration Could Be Possible With the Discovery of New Genetic Clues
What is Age-Related Macular Degeneration?
Age-related macular degeneration (AMD) is an eye disease with no early symptoms but causes loss of central vision. According to National Eye Institute, this happens when aging causes damage to the eye's macula that controls sharp, straight-ahead vision. The macula is part of the retina, the light-sensitive tissue in the back of the eye.
It is a common condition among old people and is the leading cause of blindness in old age. Although it might cause complete blindness, losing the central vision will make daily activities challenging.
The eye disease could happen very slowly in some people, especially with dry AMD, but could also happen faster in others, like those with wet AMD. Since there are no symptoms of early AMD, many people do not notice vision loss for a long time, which is why it is important to have regular eye check-ups.
Symptoms of AMD depend on the stage of the disease. For dry AMD, it happens in three stages - early, intermediate, and late. Early dry AMD does not have symptoms, while during the intermediate stage people could notice mild symptoms of blurriness in their central vision or trouble seeing in low lighting.
During the late stage of either dry or wet AMD, many people already notice straight lines look wavy or crooked. They also experience blurry central vision with some blank spots that may get bigger over time. Also, seeing color may not look as bright as before.
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Genetic Clues of AMD for Better Diagnosis and Treatment
For the new study, Medical Xpress reported that researchers took some skin samples from 79 participants with and without late AMD that they will use to make a model. Then they reprogrammed the samples to make stem cells called induced pluripotent stem cells. The team successfully turned it into retinal pigment epithelium cells affected by AMD using guided molecular signals.
Degeneration of the retinal pigment epithelium cells is associated with the death of photoreceptors, the light-sensing neurons in the retina that transmit visual cues to the brain.
After analyzing 127,6000 cells, they found 439 molecular signatures linked to AMD, wherein 43 are potentially new genes. Then they tested these genetic clues within the cells to reveal the differences in mitochondria of AMD cells to healthy cells.
That means the future treatment could target mitochondria to prevent or alter the course of AMD. More so, these molecular clues could be used to screen treatments for patient-specific cells and provide them with the best treatment.
They discussed their findings in full in the study titled "Transcriptomic and Proteomic Retinal Pigment Epithelium Signatures of Age-Related Macular Degeneration," published in the journal Nature Communications.
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