Corporate Banner
Satellite Banner
Mass Spectrometry
Scientific Community
 
Become a Member | Sign in
Home>News>This Article
  News
Return

Urine Test Could Diagnose Eye Disease

Published: Friday, October 18, 2013
Last Updated: Monday, October 21, 2013
Bookmark and Share
Duke University study links patient's urine to gene mutations that cause retinitis pigmentosa an inherited, degenerative disease that results in severe vision impairment and often blindness.

"My collaborators, Dr. Rong Wen and Dr. Byron Lam at the Bascom Palmer Eye Institute in Florida first sought my expertise in mass spectrometry to analyze cells cultured from a family in which three out of the four siblings suffer from retinitis pigmentosa (RP)," said Ziqiang Guan, an associate research professor of biochemistry in the Duke University Medical School and a contributing author of the study. 

Guan's collaborators had previously sequenced the genome of this family and found that the children with RP carry two copies of a mutation at the dehydrodolichol diphosphate synthase (DHDDS) gene, which makes the enzyme that synthesizes organic compounds called dolichols. In humans, dolichol-19, containing 19 isoprene units, is the most abundant species. 

The DHDDS mutation, which was found in 2011, is the latest addition to more than 60 gene mutations that have been implicated in RP. This mutation appears to be prevalent in RP patients of the Ashkenazi Jewish origin, and 1 in 322 Ashkenazi carries one copy of the mutation. 

"I knew from my previous experience in analyzing urine samples from liver disease patients that I can readily detect dolichols by liquid chromatography and mass spectrometry," Guan said. Using these techniques, he analyzed urine and blood samples from the six family members and found that instead of dolichol-19, the profiles from the three siblings with RP showed dolichol-18 as the dominant species. The parents, who each carry one copy of the mutated DHDDS gene, showed intermediate levels of dolichol-19 and higher levels of dolichol-18 than their healthy child. Guan believes dolichol profiling could effectively distinguish RP caused by DHDDS mutation from that caused by other mutations. 

Guan and his collaborators hope to develop the dolichol profiling method as a first-line diagnostic test to identify RP patients with abnormal dolichol metabolism. They think this mass spectrometry-based detection method will help physicians provide more personalized care to RP patients, especially to young children whose retinal degeneration has not fully developed. 

"Since the urine samples gave us more distinct profiles than the blood samples, we think that urine is a better clinical material for dolichol profiling," he said. Urine collection is also easier than a blood draw and the samples can be conveniently stored with a preservative. The team is now pursuing a patent for this newl diagnostic test for the DHDDS mutation. 

There are currently no treatments for RP, but Guan hopes his research will shed light on potential drug design strategies for treating RP caused by DHDDS mutation. "We are now researching ways to manipulate the dolichol synthesis pathway in RP patients with the DHDDS mutation so that the mutated enzyme can still produce enough dolichol-19, which we believe may be important for the rapid renewal of retinal tissue in a healthy individual." 

The research by Guan and his collaborators was supported by NIH grants LIPID MAPS Collaborative Grant GM-069338; R01EY018586; P30-EY014801; Department of Defense grant W81XWH-09-1-0674; Adrienne Arsht Hope for Vision fund; and an unrestricted grant from Research to Prevent Blindness, Inc.

The findings appear online in the Journal of Lipid Research.


Further Information

Join For Free

Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 2,900+ scientific posters on ePosters
  • More than 4,200+ scientific videos on LabTube
  • 35 community eNewsletters


Sign In



Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into TechnologyNetworks.com you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.

Related Content

Newly Identified Biochemical Pathway Could Be Target for Insulin Control
Researchers at Duke Medicine and the University of Alberta are reporting the identification of a new biochemical pathway to control insulin secretion from islet beta cells in the pancreas, establishing a potential target for insulin control.
Tuesday, September 29, 2015
Boy or Girl? Lemur Scents Have the Answer
A new study finds that a pregnant lemur’s signature scent depends in part on whether she’s carrying a girl or a boy.
Friday, February 27, 2015
Scientific News
Spotlight on Acoustic Liquid Handling
Journal of Laboratory Automation special issue highlights how acoustic liquid handling enables breakthrough innovations.
Microbes Take Their Vitamins
Scientists exploit organisms' needs in order to track 'vitamin mimics' in bacteria.
Keeping a Specimen's Story Straight
Imagine 96 people standing shoulder to shoulder, not touching and attempting to breathe only the air un-exhaled by the others. Sound impossible?
Portable Kit Can Recover Traces of Chemical Evidence
A chemist at the National Institute of Standards and Technology (NIST) has developed a portable version of his method for recovering trace chemicals such as environmental pollutants and forensic evidence including secret graves and arson fire debris.
Diagnosis of Two Rare Childhood Diseases Improved
For the first time, researchers have developed tests that could improve the diagnosis of two rare childhood diseases known as congenital disorders of glycosylation (CDGs) and metachromatic leukodystrophy, and that could even lead to new treatments for CDGs.
Cleaning Out the Membrane Each Day
Cell membranes are made up of a lipid bilayer that is constantly changing due to the flux of material in and out of the cell.
New Test for Cancer and Diabetes Biomarkers
University of Warwick researchers developed the test to help identify molecules in collagen.
Cooperating Bacteria Isolate Cheaters
Bacteria, which reciprocally exchange amino acids, stabilize their partnership on two-dimensional surfaces and limit the access of non-cooperating bacteria to the exchanged nutrients.
Novel Approach to Understanding Brain Function
Russell Poldrack scanned his brain to create the most detailed map of brain connectivity ever.
Periodic Table of Protein Complexes
New tool helps to visualise, understand and predict how proteins combine to drive biological processes.
Scroll Up
Scroll Down
Skyscraper Banner

Skyscraper Banner
Go to LabTube
Go to eposters
 
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
2,900+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
4,200+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FOR FREE!