Blood-clotting agent can diagnose fatal genetic diseases, finds study
2011-02-04
(Press-News.org) University of Manchester scientists have shown that a protein involved in blood clotting can be used to diagnose and subsequently monitor the treatment of a group of childhood genetic diseases.
In the study, published in the Journal of Inherited Metabolic Disease, the researchers were able to show that the clotting agent, heparan cofactor II/Thrombin (HCII/T) complex, could be used as a 'biomarker', or biological tell, in individuals with mucopolysaccharide (MPS) diseases.
MPS diseases are severe metabolic conditions caused by a genetic defect that affects the body's ability to break down complex sugars in cells and the bloodstream. The conditions result in a range of symptoms from abnormal skeletal development to mental decline and even premature death depending on the type of sugars built up in the body.
Treatment options have been limited but recent advances whereby the missing or faulty enzyme that breaks down the sugars is replaced artificially in affected individuals has made the need for an accurate diagnostic tool for these diseases more pressing.
Lead researcher Dr Brian Bigger, from Manchester's MPS Stem Cell Research Laboratory, said: "HCII/T complex was originally developed in Canada as a test for patients with MPSI, II and VI. We were able to show that HCII/T complex can clearly distinguish between untreated patients with MPSI, MPSII, MPSIIIA, MPSIIIB, MPSIIIC, MPSVI and unaffected individuals.
"We also went on to monitor long-term clinical outcomes in patients with MPSI, MPSII and MPSVI after treatment to show that elevations of both this biomarker, and the dermatan sulphate:chondroitin sulphate biomarker currently used in the diagnostic laboratory in Manchester, correlated with clinical treatment outcomes in patients.
"Two of the sugars that are commonly accumulated in MPS diseases are heparan sulphate (HS) and dermatan sulphate (DS). Other sugars such as chondroitin sulphate (CS) are usually not accumulated in the disease. By measuring the ratio of DS:CS in urine we can accurately diagnose the disease, but detection of sugars is expensive and technically challenging. Instead, the HCIIT method relies on detection of proteins binding to sugars and is much cheaper to perform."
Simon Jones, a consultant paediatrician at St Mary's Hospital in Manchester and co-author on the paper, added: "These are difficult diseases to treat and monitor so advances such as this will help us to diagnose and treat patients more effectively in the future."
###
Notes to editors:
The open-access paper, entitled "Heparin cofactor II-thrombin complex and dermatan sulphate:chondroitin sulphate ratio are biomarkers of short and long-term treatment effects in mucopolysaccharide diseases", is available to view here: http://springerlink.metapress.com/content/3u513443m286tp62/fulltext.html
END
ELSE PRESS RELEASES FROM THIS DATE:
2011-02-04
University of Granada scientists have been the first to analyze the relation between drug abuse and recognition of basic emotions (happiness, surprise, wrath, fear, sadness and disgust) by drug-abusers. Thus, the study revealed that drug-abusers have difficulty to identify negative emotions by their facial expression: wrath, disgust, fear and sadness.
Further, regular abuse of alcohol, cannabis and cocaine usually affects abusers' fluency and decision-making. Consuming cannabis and cocaine negatively affects work memory and reasoning. Similarly, cocaine abuse is associated ...
2011-02-04
Pacific Northwest farmers could someday be filling up their machinery's tanks with fuels produced from their own fields, according to ongoing research by U.S. Department of Agriculture (USDA) scientists.
Since 2003, Agricultural Research Service (ARS) microbiologist Hal Collins and agronomist Rick Boydston have been studying safflower, camelina, soybeans, mustard, canola, wheat, corn and switchgrass to assess their potential for bioenergy production. ARS is USDA's chief intramural scientific research agency, and this research supports the USDA priority of developing ...
2011-02-04
Moving to a new country is difficult—learning the cultural rules and meanings of your new home is especially challenging. A new study published in Psychological Science, a journal of the Association for Psychological Science, finds that this process is easier for children, but quickly becomes more difficult after about the age of 15.
Psychological scientists have found that many aspects of learning and development have a critical window—if a developmental event doesn't happen by a particular age, it never will. For example, learning perfect pitch or learning to see with ...
2011-02-04
Camden, N.J., February 3, 2011– Studies show drinking V8® 100% vegetable juice may be a simple way for people to increase their vegetable intake and may help them manage their weight – two areas of concern outlined in the newly released 2010 U.S. Dietary Guidelines for Americans.1
A study conducted by researchers at the University of California-Davis found that adults who drank one, 8-ounce glass of vegetable juice each day, as part of a calorie-appropriate Dietary Approaches to Stop Hypertension (DASH) diet, got nearly twice as many vegetable servings a day than those ...
2011-02-04
CHAMPAIGN, Ill. — Researchers have discovered the 100 million-year-old ancestor of a group of large, carnivorous, cricket-like insects that still live today in southern Asia, northern Indochina and Africa. The new find, in a limestone fossil bed in northeastern Brazil, corrects the mistaken classification of another fossil of this type and reveals that the genus has undergone very little evolutionary change since the Early Cretaceous Period, a time of dinosaurs just before the breakup of the supercontinent Gondwana.
The findings are described in a paper in the open access ...
2011-02-04
MBL, WOODS HOLE, MA—The ubiquitous freshwater "water flea," Daphnia pulex, may be too small to see, but it has amply proven its value as an "sentinel species" for the presence of toxins and pollutants in the environment.
Daphnia's response to exposure to toxic metals and other chemical pollutants is well studied, and this information is routinely used by groups such as the US Environmental Protection Agency (EPA) to define regulatory limits, and to monitor industrial and municipal discharges.
This week, Daphnia pulex is receiving an enormous pat on the back from the ...
2011-02-04
Earth observation scientists at the University of Leicester have recorded stunning images of tropical cyclone Yasi by orbiting satellites.
Japanese Meteorological Agency and European Space Agency satellite instruments have been observing the intense storm over Australia from their vantage points in space.
University of Leicester scientists have used two instruments, MTSAT-2 and MERIS, which have enabled the scientists to follow the progress of the storm as it headed towards and then struck the Australian coast. They have provided unique views from space of a storm ...
2011-02-04
Cancer researchers have discovered that a type of regulatory RNA may be effective in fighting ovarian cancer. Ovarian cancer isn't typically discovered until it's in the advanced stages, where it is already spreading to other organs and is very difficult to fight with chemotherapy. This new discovery may allow physicians to turn back the clock of the tumor's life cycle to a phase where traditional chemotherapy can better do its job.
Scientists at the Ovarian Cancer Institute Laboratory at the Georgia Institute of Technology have found in initial tests that a regulatory ...
2011-02-04
New experiments show that common scientific rules can apply to significantly different phenomena operating on vastly different scales.
The results raise the possibility of making discoveries pertaining to phenomena that would be too large or impractical to recreate in the laboratory, said Cheng Chin, associate professor in physics and the James Franck Institute at the University of Chicago. Chin and associates Chen-Lung Hung, Xibo Zhang and Nathan Gemelke published their results in the Jan. 26 Advance Online Publication (Feb. 10 print edition) of the journal Nature.
Chin ...
2011-02-04
ATLANTA – The American College of Rheumatology today announced the release of two new provisional definitions of rheumatoid arthritis remission, which are to be applied to future RA clinical trials.
According to research presented in the March issue of Arthritis & Rheumatism, a person with RA who is enrolled in a clinical trial would need to meet one of the following definitions to be considered in remission:
1. Tender joint count, swollen joint count (on 28 joint counts), C-reactive protein (in mg/dl), and patient global assessment scores (on a scale of zero to 10) ...
LAST 30 PRESS RELEASES:
[Press-News.org] Blood-clotting agent can diagnose fatal genetic diseases, finds study
