Scientists unravel the cause of rare genetic disease: Goldman-Favre Syndrome explained
A new research report published in The FASEB Journal will help ophthalmologists and scientists better understand a rare genetic disease that causes increased susceptibility to blue light, night blindness, and decreased vision called Enhanced S-Cone Syndrome or Goldman-Favre Syndrome. In the report, scientists found that the expression of genes responsible for the healthy renewal of rods and cones in the retina was reduced and that this problem originates in the photoreceptors themselves rather than in the adjacent retinal pigment epithelial layer as once thought.
"This research could help identify therapeutic agents that would prevent, ameliorate or possibly cure these blinding diseases related to defective renewal of retinal cells," said Krzysztof Palczewski, Ph.D., a senior scientist involved in the research and an editorial board member of The FASEB Journal from the Department of Pharmacology in the School of Medicine at Case Western Reserve University, in Cleveland, Ohio. "It is possible that during aging, this process is slowed and such intervention could be important for determining diseases such as age-related macular degeneration."
To make this discovery, researchers studied both human ESCS patients and an ESCS mouse model. They found that phagocytosis, a process that allows for the normal and continual renewal of rods and cones in the retina, was defective. Using RNA-sequencing to identify differences in complete transcriptomes, and cell culture techniques, scientists demonstrated that the phagocytotic defect was due to the ESCS photoreceptors themselves, rather than the adjacent retinal pigment epithelium layer that also is involved in photoreceptor phagocytosis.
"Learning what goes wrong in rare diseases like Enhanced S-Cone Syndrome allows us to understand how vision works at the molecular level," said Gerald Weissmann, M.D., Editor-in-Chief of The FASEB Journal. "This study provides valuable insight into how the eye renews its photoreceptor cells. Knowing that photoreceptor cells affect their own renewal will surely have an impact on other, more common, forms of retinal degeneration."
According to the U.S. National Institutes of Health Office of Rare Diseases, Enhanced S-Cone Syndrome is an inherited eye disease that affects the retina. Within the retina are "red," "blue," and "green" cones allowing people to see colors properly; and rods which allows us to see in dim light. People with Enhanced S-Cone Syndrome are born with an overabundance of blue cones, reduced numbers of red and green cones, and few, if any, functional rods. This leads to an increased sensitivity to blue light, varying degrees of red and green cone vision, night blindness occurring from early life, vision loss, and retinal degeneration.
More information: Debarshi Mustafi, Brian M. Kevany, Christel Genoud, Kiichiro Okano, Artur V. Cideciyan, Alexander Sumaroka, Alejandro J. Roman, Samuel G. Jacobson, Andreas Engel, Mark D. Adams, and Krzysztof Palczewski. Defective photoreceptor phagocytosis in a mouse model of enhanced S-cone syndrome causes progressive retinal degeneration. FASEB J September 2011 25:3157-3176, doi:10.1096/fj.11-186767
- Researchers discover mechanism that helps humans see in bright and low light Oct 13, 2009 | not rated yet | 0
- Mutated gene in zebrafish sheds light on blindness in humans Mar 24, 2009 | not rated yet | 0
- Developing gene therapy to fight blindness Jul 29, 2009 | not rated yet | 0
- Chickens 'one-up' humans in ability to see color Feb 16, 2010 | not rated yet | 0
- First Look at the 'Birth' of a Retina Cell May 05, 2006 | 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
Why is zone 1 in liver more prone to ischemic injury?
May 23, 2013 Hi, Is it because around central vein, there is only deoxygenated blood from the vein where as in the periphery there is hepatic artery. Also why...
How can there be villous adenoma in colon, if there are no villi there
May 22, 2013 As title suggest. Thanks :smile:
How can there be a term called "intestinal metaplasia" of stomach
May 21, 2013 Hello everyone, Ok Stomach's normal epithelium is simple columnar, now in intestinal type of adenocarcinoma of stomach it undergoes "intestinal...
Pressure-volume curve: Elastic Recoil Pressure don't make sense
May 18, 2013 From pressure-volume curve of the lung and chest wall (attached photo), I don't understand why would the elastic recoil pressure of the lung is...
If you became brain-dead, would you want them to pull the plug?
May 17, 2013 I'd want the rest of me to stay alive. Sure it's a lousy way to live but it beats being all-the-way dead. Maybe if I make it 20 years they'll...
MRI bill question
May 15, 2013 Dear PFers, The hospital gave us a $12k bill for one MRI (head with contrast). The people I talked to at the hospital tell me that they do not...
- More from Physics Forums - Medical Sciences
More news stories
By discovering the new mechanism by which estrogen suppresses lipid synthesis in the liver, UC Irvine endocrinologists have revealed a potential new approach toward treating certain liver diseases.
Medical research May 23, 2013 | 5 / 5 (1) | 0 |
Aortic arch pulse wave velocity, a measure of arterial stiffness, is a strong independent predictor of disease of the vessels that supply blood to the brain, according to a new study published in the June issue the journal ...
Medical research May 23, 2013 | not rated yet | 0
Since the discovery of Prontosil in 1932, sulfonamide antibiotics have been used to combat a wide spectrum of bacterial infections, from acne to chlamydia and pneumonia. However, their side effects can include serious neurological ...
Medical research May 23, 2013 | not rated yet | 0 |
Scientists at the National Institutes of Health report they have discovered in mouse studies that a small molecule released in the spinal cord triggers a process that is later experienced in the brain as ...
Medical research May 23, 2013 | 5 / 5 (3) | 0 |
Spanish researchers have discovered that the daily clearance of neutrophils from the body stimulates the release of hematopoietic stem cells from the bone marrow into the bloodstream, according to a report published today ...
Medical research May 23, 2013 | 5 / 5 (2) | 0
(Medical Xpress)—A new study by researchers in the US has shown that an ancient virus can be modified to help in the fight against the simian immunodeficiency virus SIV, which is the equivalent in monkeys ...
18 hours ago | 5 / 5 (3) | 0 |
Two mutations central to the development of infantile myofibromatosis (IM)—a disorder characterized by multiple tumors involving the skin, bone, and soft tissue—may provide new therapeutic targets, according to researchers ...
13 hours ago | 3 / 5 (2) | 0 |
Women at a particular stage in their monthly menstrual cycle may be more vulnerable to some of the psychological side-effects associated with stressful experiences, according to a study from UCL.
15 hours ago | 3.7 / 5 (3) | 0 |
Biological processes are generally based on events at the molecular and cellular level. To understand what happens in the course of infections, diseases or normal bodily functions, scientists would need to ...
16 hours ago | 5 / 5 (4) | 0 |
How can healthy people who hear voices help schizophrenics? Finding the answer for this is at the centre of research conducted at the University of Bergen.
18 hours ago | 4 / 5 (2) | 2
(Medical Xpress)—The way Alzheimer's disease is portrayed by advocacy groups and the media is having undue influence on the euthanasia debate, according to a Deakin University nursing ethics professor.
20 hours ago | not rated yet | 2