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Friday July 26, 2024
The cellular basis of dry AMD is revealed in a new study.
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Scientists at the National Institutes of Health have identified the cause of the malfunction of cells that clear waste from the eye's retina.
Scientists from the NIH in Baltimore and Johns Hopkins University in Baltimore have published a report detailing how alterations in a factor known as AKT2 can affect the function of organelles called lysosomes and lead to deposits called drusen in the retina, a sign of dry age-related maculopathy (AMD). The researchers say the findings indicate that drusen are a downstream effect of AKT2-related dysfunction in lysosomes and point to a potential new therapeutic target.
Lysosomes act as a cellular garbage disposal and are essential for maintaining the retina's ability to sense light. Key cells in the retinal pigment epithelium (RPE) provide nutrients and oxygen to energetically active retinal neurons. Lysosomes also process waste products from the retina. Drusen formation is caused by the cells' inability to properly process waste products. Drusen numbers increase as AMD progresses. Even after extensive research, drusen formation remains largely unknown.
In mice, the researchers manipulated AKT2 expression levels in the RPE. The mice developed symptoms of dry AMD, such as RPE degradation, when they overexpressed AKT2. The researchers observed similar features in RPE cell samples from donors with AMD or in RPE derived from patient stem cells. Cells from donors with a genetic variant known as CFH Y402H that increases the risk of AMD had higher AKT2 expression, functionally deficient lysosomes, and drusen formation.
The results of this study could form the basis of future treatments for dry AMD, a condition for which there is currently no cure. AMD is the leading cause of blindness in the United States. Dry AMD causes drusen to form in the area of the retina that detects light, called the macula. This is the part where people can see clearly and sharply.
This study is based on previous research published by Ruchi Sharma Ph.D. of the NEI Section on Ocular Stem Cells and Translational Research. She developed RPE models derived from AMD stem cells (Sharma et. al., 2021).
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Kapil Bharti and Ruchi Singh, both PhDs, are co-leaders of the Ocular Stem Cell and Translational Research (OSCTR) Section, within the NIH National Eye Institute Intramural Research Program.
The article below provides more information about the item.
Ghosh S, Sharma R et al. The AKT2/SIRT5/TFEB pathway as a possible therapeutic target for non-neovascular AMD. Nat. Commun. Nat Commun. 10.1038/s41467-024-50500-z.
Sharma R, et al. Drugs that restore epithelial phenotype suppress iPSC macular degeneration phenotypes. Nat. Commun. 2021 Dec 15;12(1):7293. do I: 10.1038/s41467-021-27488-x.
This release summarizes a finding from basic research. Basic research helps us understand human behavior and the biology of disease. Every research breakthrough builds on previous discoveries in unpredictable ways. Without basic research, most clinical advances would be impossible. Visit this site to learn more about the basics of research. https://www.nih.gov/news-events/basic-research-digital-media-kit.
NEI leads the federal effort to eradicate vision loss and improve quality of life through vision research. We do this by fostering innovation, fostering collaborative relationships, increasing the number of vision workers, and educating key stakeholders and the public. NEI funds basic and clinical research programs aimed at improving the quality of life for people with vision loss and developing treatments to save sight. Visit for more information. https://www.nei.nih.gov.
The National Institutes of Health: NIH is the medical research agency of the United States Department of Health and Human Services. It includes 27 institutes and centers. The NIH, the nation's medical research agency, is a component of the U.S. Department of Health and Human Services. It is responsible for conducting basic, translational, clinical and other medical research. Visit NIH for more information about its programs and services. www.nih.gov.
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