Corporate Banner
Satellite Banner
Molecular & Clinical Diagnostics
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 3,200+ scientific posters on ePosters
  • More than 4,600+ 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

Duke Awarded $10.4 Million Contract To Continue Developing Radiation Test
The blood test will be able to tell in hours how much radiation a person has absorbed from a nuclear incident.
Friday, February 20, 2015
Scientific News
Proteins in Blood of Heart Disease Patients May Predict Adverse Events
Nine-protein test shown superior to conventional assessments of risk.
£14m EU Project To Aid Meningitis Diagnosis and Cut Antibiotic Use
An international team of doctors are aiming to develop a rapid test to allow medics to quickly identify bacterial infection in children.
Bringing AFM to Medical Diagnostics
Company has announced that its NanoWizard® AFM and ForceRobot® systems are being used in the field of medical diagnostics in the Supersensitive Molecular Layer Laboratory of POSTECH in Korea.
Scientific Gains May Make Electronic Nose the Next Everyday Device
UT Dallas team breathes new life into possibilities by using CMOS integrated circuits technology.
Electronic Sensor Tells Dead Bacteria From Live
The sensor, which measures 'osmoregulation', is a potential future tool for medicine and food safety.
Diagnosing Systemic Infections Quickly, Reliably
Team develop rapid and specific diagnostic assay that could help physicians decide within an hour whether a patient has a systemic infection and should be hospitalized for aggressive intervention therapy.
A Future Tool for Medicine, Food Safety
A new type of electronic sensor that might be used to quickly detect and classify bacteria for medical diagnostics and food safety has passed a key hurdle by distinguishing between dead and living bacteria cells.
Genome Sequencing Helps Determine End of TB Outbreak
Using genome sequencing, researchers from the University of British Columbia, along with colleagues at the Imperial College in London, now have the ability to determine when a tuberculosis (TB) outbreak is over.
What Makes a Good Scientist?
It’s the journey, not just the destination that counts as a scientist when conducting research.
Shimmer Partners with Harvard's Wyss Institute
Partnership to support ongoing research focused on remote patient monitoring using wearable sensing technology.
SELECTBIO

SELECTBIO Market Reports
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
3,200+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
4,600+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FOR FREE!