Navigation Links
Long-suspected cause of blindness from eye disease disproved
Date:3/11/2013

um into the cell cytosol, which blocks the synthesizing of very long chain fatty acids in photoreceptor cells. But proving that the lack of these fatty acids actually causes blindness has been difficult to show in experiments, because mice in which the ELOVL4 was knocked out did not survive.

Krizaj and his colleagues overcame that problem by engineering mouse models that lacked ELOVL4 only in their photoreceptor cells, allowing the mice to survive but with the fatty acids in those cells reduced up to 90 percent. This allowed them to test directly whether loss of very long chain fatty acids replicates vision loss observed in children with Stargardt's disease. As they report in the journal, electrophysiological and behavioral testing of daytime and night vision in genetically engineered mice showed that sight was not affected despite the dramatic reduction in very long chain fatty acids in photoreceptor cells.

Researchers now must look for a different cause of Stargardt type 3. "If it's not the loss of fatty acids causing the disease, then we'll have to find other strategies to help these kids," Krizaj says.

One possibility, according to Krizaj, is that mutated proteins, escaping from the endoplasmic reticulum are aggregating in the cytoplasm causing large deposits consisting of mutated and normal proteins, which is "almost like causing photoreceptor cell death by blocking intracellular traffic and clogging the cells' drains."


'/>"/>

Contact: Phil Sahm
phil.sahm@hsc.utah.edu
801-581-2517
University of Utah Health Sciences
Source:Eurekalert

Page: 1 2

Related biology news :

1. Will a genetic mutation cause trouble? Ask Spliceman
2. Record-breaking grant: New research project to investigate the causes of mental disorders
3. BPA could affect reproductive capabilities, cause infection of the uterus
4. Researcher who identifed genetic cause and possible treatment for Marfan syndrome honored
5. A new gene thought to be the cause in early-onset forms of Alzheimers disease
6. Long-term research reveals causes and consequences of environmental change
7. Changes in brains blood flow could cause brain freeze
8. Yeast cell reaction to Zoloft suggests alternative cause, drug target for depression
9. Glycogen accumulation in neurons causes brain damage and shortens the lives of flies and mice
10. Double the pain: RUB biologists find the cause of pain in the treatment of fair skin cancer
11. Gene mutations cause massive brain asymmetry
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:10/15/2014)... has admitted Johannes Gutenberg University Mainz (JGU) as ... hub continues to maintain a significant nationwide standing ... "The acceptance of Johannes Gutenberg University Mainz as ... milestone in the national and international competition for ... of Rhineland-Palatinate can be proud that Mainz University ...
(Date:10/15/2014)... resistance to bacterial pneumonia in female mice to an ... Females are naturally more resistant to respiratory infections than ... that increased resistance to bacterial pneumonia in female mice ... (NOS3). They also show that this enzyme is ultimately ... estrogen. , The team, lead by Professor Lester Kobzik ...
(Date:10/15/2014)... Alt will be awarded the 44th Rosenstiel Award for ... his pioneering research exploring the mechanisms of genomic instability ... cells. Alt is the second alumnus to win the ... Prize in 2003. , Alt is the Charles A. ... Harvard Medical School and an investigator at the Howard ...
Breaking Biology News(10 mins):Johannes Gutenberg University Mainz joins Germany's Gauss-Allianz as a full member 2Johannes Gutenberg University Mainz joins Germany's Gauss-Allianz as a full member 3Brandeis awards 44th Rosenstiel Award to pioneering geneticist Fred Alt 2
... Researchers at St. Michael,s Hospital have put forward a ... condition that occurs when infection spreads throughout the body. ... rather than a symptom as previously thought, said Dr. Warren ... research on sepsis were published today in the journal ...
... (Bethesda, MD): Today, on behalf of the Association for ... at the US Food and Drug Administration,s (FDA) meeting ... Approaches to Assess Analytical Validity." As they begin ... advised FDA officials on many important considerations for evaluating ...
... huge expanses of the North Pacific Ocean are major corridors ... seasonal patterns, according to final results from the Census of ... today in the journal Nature ., The paper culminates ... movements in the Pacific Ocean. It presents for the first ...
Cached Biology News:Researchers suggest new way of looking at what causes sepsis 2AMP comments at FDA meeting on next-generation sequencing 2Teeming with life, Pacific's California current likened to Africa's Serengeti Plain 2Teeming with life, Pacific's California current likened to Africa's Serengeti Plain 3Teeming with life, Pacific's California current likened to Africa's Serengeti Plain 4Teeming with life, Pacific's California current likened to Africa's Serengeti Plain 5
(Date:10/22/2014)... October 22, 2014 Physicians Choice ... cardiovascular pharmacogenetics menu, which enables healthcare providers to ... With PCLS’s evidence-based results, healthcare providers are better ... their therapy, while minimizing risks for adverse drug ... according to the FDA [1] more than 2.2 ...
(Date:10/22/2014)... Research and Markets  has announced the ... by Application, Geography - Global Analysis and Forecast (2014 ... Organic electronics, also called as polymer electronics or ... deals with small conductive molecules and electrically conductive polymers. ... polymers are carbon based, made using synthetic strategies developed ...
(Date:10/20/2014)... PARK, Calif. , Oct. 20, 2014 /PRNewswire/ ... today that the Company has signed a Notice ... of Regenerative Medicine (CIRM), effective October 1, 2014.  ... Clinical Development payments and the release of additional ... million CIRM grant award for clinical development of ...
(Date:10/20/2014)... October 20, 2014 OncLive® ... Kimmel Cancer Center at Thomas Jefferson University has ... Through the Strategic Alliance Partnership program, the Sidney ... collaborate to raise awareness of the Center’s cutting-edge ... other projects. Clinicians and other health care professionals ...
Breaking Biology Technology:PCLS Announces Expansion of Cardiovascular Pharmacogenetic Testing Menu 2PCLS Announces Expansion of Cardiovascular Pharmacogenetic Testing Menu 3Global Organic Electronics (Semiconductor, Conductive, Dielectric and Substrate) Market - Analysis and Forecast (2014 - 2020) 2Global Organic Electronics (Semiconductor, Conductive, Dielectric and Substrate) Market - Analysis and Forecast (2014 - 2020) 3Asterias Biotherapeutics Announces Notice of Grant Award with CIRM for Phase 1/2a Clinical Trial of AST-OPC1 in Complete Cervical Spinal Cord Injury 2Asterias Biotherapeutics Announces Notice of Grant Award with CIRM for Phase 1/2a Clinical Trial of AST-OPC1 in Complete Cervical Spinal Cord Injury 3Asterias Biotherapeutics Announces Notice of Grant Award with CIRM for Phase 1/2a Clinical Trial of AST-OPC1 in Complete Cervical Spinal Cord Injury 4Sidney Kimmel Cancer Center at Thomas Jefferson University Partners With OncLive 2Sidney Kimmel Cancer Center at Thomas Jefferson University Partners With OncLive 3
... 23, 2012 SiREM ( www.siremlab.com ) and ... signing of a Sales Agency Agreement between the ... Tersus Environmental will market, promote and sell SiREM,s ... as well as Gene-Trac® molecular testing services and ...
... Mich. and AMSTERDAM, Feb. 23, 2012   Rubicon ... sample-specific pre-analytical processes to improve the capabilities ... platforms, today announced a clinical supply agreement ... TransPLEX® whole genome RNA amplification technology.  Agendia ...
... Inc. (OTCBB: AMBS), a biotechnology company developing MANF, ... Gerald E. Commissiong, President and CEO, will present ... National Investment Banking Association (NIBA) conference on Thursday, ... Pavillon Hotel in New Orleans, LA. Mr. Commissiong ...
Cached Biology Technology:Rubicon Genomics and Agendia Sign Agreement for Use of TransPLEX® Whole Genome RNA Amplification Technology With Symphony™ Cancer Diagnostics 2Rubicon Genomics and Agendia Sign Agreement for Use of TransPLEX® Whole Genome RNA Amplification Technology With Symphony™ Cancer Diagnostics 3Amarantus BioSciences to Present at the 2012 National Investment Banking Association Conference in New Orleans 2
RABBIT ANTI HUMAN APP (KP1 DOMAIN) Immunogen: Synthetic peptide composed of amino acids 292-312 from the KPI domain of human APP....
Request Info...
... materials necessary for the isolation and preparation of ... Kit Components: Erythrocyte ... containing 220 mL of buffered ammonium chloride. (NH ... No. 5113) One bottle containing 220 mL of ...
... For use with suspension (non-adherent) ... uses vacuum filtration or centrifugation ... media. Compatible with 96-well ... in larger package sizes and ...
Biology Products: