Navigation Links
Scientists focus on 'dwarf eye'

a is too close to the lens, but the lens and cornea, the eye's outermost layer, are of normal size and shape.

"Eyes with nanophthalmos still work quite well, despite these complications," said Sundin. "But the disease's secondary complications later in life, including glaucoma or detached retina, are far more severe and can lead to complete blindness."

One such patient with nanophthalmos, an Amish-Mennonite woman who was blind in one eye, came to the Wilmer Eye Institute in 1998 for treatment. By reconstructing the woman's family tree, the researchers discovered that several living relatives also suffered from nanophthalmos, and four deceased relatives had been part of the classic Johns Hopkins Bloomberg School of Public Health study in the 1970s that helped define the disease as genetic.

In Sundin's study, the researchers examined the woman's DNA for possible gene mutations causing nanophthalmos. According to Sundin, MFRP was a surprise candidate.

"Mutant MFRP was recently identified in mice as a cause of retinal degeneration, not extreme farsightedness," he said. "However, a mouse's eyes do not adjust their focus through growth like human eyes do, so MFRP has a completely different function in mice and was not assumed to alter eye refraction in humans."

The research team successfully mapped the MFRP gene mutation in humans and discovered that the protein was completely missing from nanophthalmos patients.

In a normal human eye, the MFRP protein is located on the surface of the retinal pigment epithelium (RPE), which is located beneath the retina and helps maintain photoreceptors, the eye's light-detecting cells. Blindness occurs when these cells die after detachment of the retina from the RPE.

Beneath the RPE are two layers of structural tissue that give the eye its shape. During childhood, these tissues stretch, like a balloon, as the eye grows. "The RPE is believed to be the key link in signaling the
'"/>

Source:Johns Hopkins Medical Institutions


Page: 1 2 3

Related biology news :

1. Scientists ID molecular switch in liver that triggers harmful effects of saturated and trans fats
2. Scientists Replicate Hepatitis C Virus in Laboratory
3. Scientists detect probable genetic cause of some Parkinsons disease cases
4. Scientists find missing enzyme for tuberculosis iron scavenging pathway
5. Scientists seek answers on what activates deadly anthrax spores
6. Yale Scientists Find MicroRNA Regulates Ras Cancer Gene
7. Scientists collaborate to assess health of global environment
8. Scientists decipher genome of fungus that can cause life-threatening infections
9. Scientists discover the cellular roots of graying hair
10. Scientists rid stem cell culture of key animal cells
11. Scientists develop new color-coded test for protein folding
Post Your Comments:
*Name:
*Comment:
*Email:
TAG: Scientists focus dwarf eye

(Date:8/27/2014)... Ebola is a rare, but deadly disease that exists ... One of the most lethal strains is the Sudan ... Africa, SUDV has caused widespread illness, even as recently ... journal ACS Chemical Biology , researchers now report ... infected with SUDV. , John Dye, Sachdev Sidhu, Jonathan ...
(Date:8/27/2014)... Outstanding basic research, a growing focus on ... patient care have earned the Herbert Irving Comprehensive ... (CUMC) and NewYork-Presbyterian Hospital an $18 million, five-year ... Institute (NCI). The grant renews the center,s status ... Centers in New York City and one of ...
(Date:8/27/2014)... shown that excessive iron is closely associated ... studies from Chunyan Guo and co-workers from ... that baicalin prevented iron accumulation after substantia ... expression, and increased ferroportin 1 expression in ... rats. However, the relationship between iron concentration ...
Breaking Biology News(10 mins):Potential therapy for the Sudan strain of Ebola could help contain some future outbreaks 2Herbert Irving Comprehensive Cancer Center awarded $18 million grant 2Herbert Irving Comprehensive Cancer Center awarded $18 million grant 3Herbert Irving Comprehensive Cancer Center awarded $18 million grant 4
... team led by British Antarctic Surveys (BAS) Dr Andy Smith ... ice sheet. The lake the size of Lake Windermere ... climate change and future sea-level rise. Glaciologist Dr Smith ... are camped out at one of the most remote places ...
... implications. Should children be tested for gene mutations ... cancer later in life" New research suggests ... even when any steps to reduce that risk will ... current policies., In the study published today online in ...
... PHILADELPHIA - University of Pennsylvania engineers and physicians have ... a human hair that measures electric current and delivers ... tool to probe cells with minimal intrusion and inject ... are found in almost every cell laboratory in the ...
Cached Biology News:Exploration of lake hidden beneath Antarctica's ice sheet begins 2Should children be permitted to get genetic testing for BRCA 1/2 mutations? 2Penn engineers create carbon nanopipettes that are smaller than cells and measure electric current 2
(Date:8/26/2014)... has just been added to the growing case ... the next big thing in the high-tech world ... An international collaboration of researchers led by a ... Lawrence Berkeley National Laboratory (Berkeley Lab) has reported ... in photo-excited MX2 materials. The recorded charge transfer ...
(Date:8/26/2014)... ALPHARETTA, Ga. , Aug. 26, 2014 /PRNewswire/ ... ambient biological sample collection, stabilization and transportation, announced ... with Laboratory Procurement Services, LLC (LPS) of ... ViveST line of products in the United ... a new class of ambient temperature dried biological ...
(Date:8/26/2014)... 2014 The global market for molecular ... 2020, according to a new study by Grand View ... and the subsequent introduction of advanced cancer diagnostic technologies ... over the next six years. Moreover, the growing global ... cancer, coupled with disease triggering lifestyle habits such as ...
(Date:8/26/2014)... , Aug. 26, 2014 Trovagene, ... Next Generation Dx Summit; Moving Assays to the ... Detection and Monitoring of Cell Free Tumor DNA ... analytical component of its Precision Cancer Monitoring (PCM) ... clinical sensitivity for the detection of tumor DNA ...
Breaking Biology Technology:Competition for graphene 2ViveBio and Laboratory Procurement Services Sign Agreement for Distribution of the ViveST Line of Products 2World Molecular Diagnostics Market Is Expected To Grow To $8,020.1 Million From 2014 To 2020: Grand View Research, Inc 2World Molecular Diagnostics Market Is Expected To Grow To $8,020.1 Million From 2014 To 2020: Grand View Research, Inc 3World Molecular Diagnostics Market Is Expected To Grow To $8,020.1 Million From 2014 To 2020: Grand View Research, Inc 4World Molecular Diagnostics Market Is Expected To Grow To $8,020.1 Million From 2014 To 2020: Grand View Research, Inc 5World Molecular Diagnostics Market Is Expected To Grow To $8,020.1 Million From 2014 To 2020: Grand View Research, Inc 6Highly Sensitive and Quantitative Analytical Performance is Translational for Clinical Utility of Cell-Free Tumor DNA Diagnostics 2Highly Sensitive and Quantitative Analytical Performance is Translational for Clinical Utility of Cell-Free Tumor DNA Diagnostics 3Highly Sensitive and Quantitative Analytical Performance is Translational for Clinical Utility of Cell-Free Tumor DNA Diagnostics 4
... Pharma S.A., a,global specialty pharmaceutical company focused ... company, Galderma Laboratories, Inc., has,completed its acquisition ... result of the transaction, CollaGenex has become ... "We are pleased to complete the acquisition ...
... Signalife, Inc.,(Amex: SGN ) has confirmed that ... and Chief Executive Officer, Dr. Lowell T. Harmison, has,scheduled ... EDT., Dr. Harmison stated: "Now that Signalife has ... manufacturing and shipping,product, I am pleased to provide direction ...
... April 11 Dilon Technologies, Inc., a,manufacturer and ... nine additional Dilon 6800 orders have been secured ... The Dilon 6800, a high-resolution, small field-of-view ... a molecular,breast imaging technique used for the early ...
Cached Biology Technology:Galderma Completes Acquisition of CollaGenex 2Galderma Completes Acquisition of CollaGenex 3Galderma Completes Acquisition of CollaGenex 4Signalife Announces Webcast 2Signalife Announces Webcast 3
Anti-Mouse Qa.m8, Ascites (Clone 5035-24.1) (mouse IgG3)...
... contains 4 deuterium atoms at the 9, 10, ... use as an internal standard for the quantification ... is produced by incubation of linoleic acid with ... to inhibit the adhesion of tumor cells to ...
...
...
Biology Products: