Navigation Links
New test spots early signs of inherited metabolic disorders
Date:1/8/2012

A team of scientists, led by researchers at the University of California, San Diego School of Medicine and Zacharon Pharmaceuticals, have developed a simple, reliable test for identifying biomarkers for mucopolysaccharidoses (MPS), a group of inherited metabolic disorders that are currently diagnosed in patients only after symptoms have become serious and the damage possibly irreversible.

The findings will be published online January 8 in the journal Nature Chemical Biology.

MPS is caused by the absence or malfunctioning of a lysosomal enzyme required to break down and recycle complex sugar molecules called glycosaminoglycans, which are used to build bone, tendons, skin and other tissues. If not degraded and removed, glycosaminoglycans can accumulate in cells and tissues, resulting in progressive, permanent damage affecting appearance, physical abilities, organ function and often mental development in young children. The effects range from mild to severe.

There are 11 known forms of MPS, each involving a different lysosomal enzyme. A number of treatments exist, including enzyme replacement therapy and hematopoietic stem cell transplantation, but efficacy depends upon diagnosing the disease and its specific form as early as possible. That has been problematic, said Jeffrey D. Esko, PhD, professor in the Department of Cellular and Molecular Medicine and co-director of the Glycobiology Research and Training Center at UC San Diego.

"The typical time from seeing first symptoms to diagnosis of MPS is about three years. Since the early signs of disease are common childhood issues like ear infections and learning disorders, the disease is usually not immediately recognized," Esko said.

"A child often has multiple visits with their pediatrician. Eventually they are referred to a metabolic disease specialist, where rare diseases are considered. It takes an expert to identify MPS and its most likely form in each patient. Every subclass of MPS has its own specific diagnostic test, so developing better diagnostics is an essential part of effective treatment. "

In their paper, the scientists describe an innovative method to detect tell-tale carbohydrate structures specific to glycosaminoglycans in the cells, blood and urine of MPS patients. The biomarker assay identifies all known forms of the disease.

Esko is collaborating with Zacharon Pharmaceuticals, a San Diego-based biotechnology company, to develop a commercial diagnostic assay for differentiating forms of MPS from urine and blood samples, a screening test for newborns and a tool for measuring the biochemical response of MPS patients to existing and novel therapies.

"Since the severity of the disease is highly variable among patients, this could provide a tool that a doctor can use to optimize dosing or treatment," said Brett Crawford, Vice President for Research at Zacharon. "Currently, all patients are treated with the same dose of drug."

The biomarker test may also be used to discover new forms of MPS and better characterize existing ones.


'/>"/>
Contact: Scott LaFee
slafee@ucsd.edu
619-543-6163
University of California - San Diego
Source:Eurekalert

Related biology news :

1. New model predicts hot spots for mercury in fish
2. Researchers identify 4 genetic hotspots associated with psoriasis
3. American College of Medical Genetics affirms importance of newborn screening dried blood spots
4. New study ranks hotspots of human impact on coastal areas
5. Visual assistance for cosmic blind spots
6. Hawaiian submarine canyons are hotspots of biodiversity and biomass for seafloor animal communities
7. In the ring: Researchers fighting bacterial infections zero in on microorganisms soft spots
8. NASA satellite data aid United Nations ability to detect global fire hotspots
9. Four new psoriasis hotspots identified by U-M geneticists
10. PET scans reveal estrogen-producing hotspots in human brain
11. X-rays offer first detailed look at hotspots for calcium-related disease
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/2/2016)... 2, 2016 The Department of Transport ... the 44 million US Dollar project, for the , ... including Personalization, Enrolment, and IT Infrastructure , to ... production and implementation of Identity Management Solutions. Numerous renowned international ... Decatur was selected for the most compliant ...
(Date:6/1/2016)... YORK , June 1, 2016 ... Technology in Election Administration and Criminal Identification to Boost ... to a recently released TechSci Research report, " Global ... By Region, Competition Forecast and Opportunities, 2011 - 2021", ... 24.8 billion by 2021, on account of growing security ...
(Date:5/16/2016)... , May 16, 2016   EyeLock LLC ... today announced the opening of an IoT Center of ... strengthen and expand the development of embedded iris biometric ... unprecedented level of convenience and security with unmatched biometric ... one,s identity aside from DNA. EyeLock,s platform uses video ...
Breaking Biology News(10 mins):
(Date:6/23/2016)... Andrew D Zelenetz ... Published recently in Oncology ... touchONCOLOGY, Andrew D Zelenetz , discusses the ... is placing an increasing burden on healthcare systems ... With the patents on many biologics expiring, interest ...
(Date:6/23/2016)... (PRWEB) , ... June 23, 2016 , ... ... is exhibiting at the Pennsylvania Convention Center and will showcase its product’s latest ... ClinCapture will also be presenting a scientific poster on Disrupting Clinical Trials in ...
(Date:6/23/2016)... ... June 23, 2016 , ... Velocity Products, a division ... tuned and optimized exclusively for Okuma CNC machining centers at The International Manufacturing ... collaboration among several companies with expertise in toolholding, cutting tools, machining dynamics and ...
(Date:6/23/2016)... ReportsnReports.com adds 2016 global ... pharmaceuticals section with historic and forecast data along ... Complete report on the Cell Culture ... companies and supported with 261 tables and figures ... The Global Cell Culture Media Industry ...
Breaking Biology Technology: