The genetic basis for age-related macular degeneration
Fluorescent micrograph of a macula with extensive drusen accumulation. Drusen accumulate between the RPE and the choroid. In addition to being sites of inflammation, drusen are believed to disrupt normal RPE and choroid function, leading to changes in gene expression and eventual loss of vision. Image: Dr. Robert Avery, California Retina Consultants
Age-related macular degeneration (AMD) is one of the leading causes of blindness worldwide, especially in developed countries, and there is currently no known treatment or cure or for the vast majority of AMD patients. New research published in BioMed Central's open access journal Genome Medicine has identified genes whose expression levels can identify people with AMD, as well as tell apart AMD subtypes.
It is estimated that 6.5% of people over age 40 in the US currently have AMD. There is an inheritable genetic risk factor but risk is also increased for smokers and with exposure to UV light. Genome-wide studies have indicated that genes involved in the innate immune system and fat metabolism are involved in this disease. However none of these prior studies examined gene expression differences between AMD and normal eyes.
In order to address this question, researchers at the University of California Santa Barbara, the University of Utah John Moran Eye Center, and the University of Iowa combined forces and used a human donor eye repository to identify genes up-regulated in AMD. The ability of these genes to recognize AMD was tested on a separate set of samples.
The team discovered over 50 genes that have higher than normal levels in AMD, the top 20 of which were able to 'predict' a clinical AMD diagnosis. Genes over-expressed in the RPE-choroid (a tissue complex located beneath the retina) included components of inflammatory responses, while in the retina, the researchers found genes involved in wound healing and the complement cascade, a part of the innate immune system. They found retinal genes with expression levels that matched the disease severity for advanced stages of AMD.
Dr. Monte Radeke, one of the project leaders, explained, "Not only are these genes able to identify people with clinically recognized AMD and distinguish between different advanced types some of these genes appear to be associated with pre-clinical stages of AMD. This suggests that they may be involved in key processes that drive the disease. Now that we know the identity and function of many of the genes involved in the disease, we can start to look among them to develop new diagnostic methods, and for new targets for the development of treatments for all forms of AMD."
More information: Systems-level analysis of age-related macular degeneration reveals global biomarkers and phenotype-specific functional networks, Aaron M Newman, Natasha B Gallo, Lisa S Hancox, Norma J Miller, Carolyn M Radeke, Michelle A Maloney, James B Cooper, Gregory S Hageman, Don H Anderson, Lincoln V Johnson and Monte J Radeke, Genome Medicine (in press) genomemedicine.com/
Provided by BioMed Central
- Genetic finding implicates innate immune system in major cause of blindness Oct 07, 2008 | not rated yet | 0
- Elevated inflammatory marker may be linked to increased risk of age-related eye disease Oct 08, 2007 | not rated yet | 0
- Keeping an eye on the Japanese genome Jan 13, 2012 | not rated yet | 0
- Additional genes associated with age-related macular degeneration identified Apr 12, 2010 | not rated yet | 0
- Researchers develop risk assessment model for advanced age-related macular degeneration Aug 08, 2011 | not rated yet | 0
- Motion perception revisited: High Phi effect challenges established motion perception assumptions Apr 23, 2013 | 3 / 5 (2) | 2
- Anything you can do I can do better: Neuromolecular foundations of the superiority illusion (Update) Apr 02, 2013 | 4.5 / 5 (11) | 5
- The visual system as economist: Neural resource allocation in visual adaptation Mar 30, 2013 | 5 / 5 (2) | 9
- Separate lives: Neuronal and organismal lifespans decoupled Mar 27, 2013 | 4.9 / 5 (8) | 0
- Sizing things up: The evolutionary neurobiology of scale invariance Feb 28, 2013 | 4.8 / 5 (10) | 14
Classical and Quantum Mechanics via Lie algebras
Apr 15, 2011 I'd like to open a discussion thread for version 2 of the draft of my book ''Classical and Quantum Mechanics via Lie algebras'', available online at http://lanl.arxiv.org/abs/0810.1019 , and for the...
- More from Physics Forums - Independent Research
More news stories
Researchers from Queen Mary, University of London have led the largest sequencing study of human disease to date, investigating the genetic basis of six autoimmune diseases.
Genetics 21 hours ago | 4.5 / 5 (4) | 0 |
University of Minnesota Medical School researchers from the Masonic Cancer Center, University of Minnesota, in partnership with the University's Brain Tumor Program, have developed a new mouse model of malignant peripheral ...
Genetics May 20, 2013 | 5 / 5 (1) | 0 |
Northwestern University scientists have shown a gene involved in neurodegenerative disease also plays a critical role in the proper function of the circadian clock.
Genetics May 16, 2013 | 3 / 5 (1) | 1 |
Informed consent is the backbone of patient care. Genetic testing has long required patient consent and patients have had a "right not to know" the results. However, as 21st century medicine now begins to use the tools of ...
Genetics May 16, 2013 | 5 / 5 (1) | 3 |
Ethicists provide framework supporting new recommendations on reporting incidental findings in gene sequencing
In a paper published in Science Express, a group of experts led by bioethicists in the Center for Medical Ethics and Health Policy at Baylor College of Medicine provide a framework for the new American College of Medical Geneti ...
Genetics May 16, 2013 | not rated yet | 0
Professor Michael Jennings, Deputy Director of the Institute for Glycomics at Griffith University, was part of an international team that discovered the previously unknown pathway of how the bacterium colonizes people.
55 minutes ago | 5 / 5 (1) | 0 |
Scientists at Newcastle University have shed new light on how the brain tunes in to relevant information.
51 minutes ago | 5 / 5 (1) | 0 |
New techniques in imaging of brain activity developed by Jean Gotman, from McGill University's Montreal Neurological Institute, and his colleagues lead to improved treatment of patients suffering from epilepsy. The combination ...
52 minutes ago | not rated yet | 0
Studying the networks of connections in the brains of people affected by schizophrenia, bipolar disease or depression has allowed Dr. Peter Williamson, from Western University, to gain a better understanding of the biological ...
51 minutes ago | not rated yet | 0
(Medical Xpress)—Research by U of T Mississauga psychology professor Glenn Schellenberg reveals that two key personality traits – openness-to-experience and conscientiousness—predict better than IQ ...
1 hour ago | not rated yet | 0 |
(Medical Xpress)—Scientists from the Joint Center for Structural Genomics (JCSG) at SLAC National Accelerator Laboratory have determined the 3-D structure of the chemically active part of an enzyme involved ...
1 hour ago | not rated yet | 0 |