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
'/>"/>

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

0

GOOD

Page: 1 2

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:5/21/2013)... of Michigan Water Center today awarded 12 research ... restoration and protection efforts. , The two-year grants ... including efforts to track the remediation of harmful ... control non-native weedy plant invasions; study chromosomal damage ... to restoration activities. , The grants were awarded ...
(Date:5/21/2013)... the past few decades, scientists have developed many devices ... metallic stents. While generally effective, each of these treatments ... A new study from MIT analyzes the potential usefulness ... angioplasty balloons and drug-releasing stents, but may pose fewer ... in the artery for only a brief period, during ...
(Date:5/20/2013)... are also commonly resistant to antimicrobial substances made ... in mBio , the online open-access journal ... colistin and host antimicrobials LL-37 and lysozyme, which ... mean that patients with life-threatening multi-drug resistant infections ... Colistin is a last-line drug for treating several ...
Breaking Biology News(10 mins):U-M Water Center awards $570K in Great Lakes restoration grants 2U-M Water Center awards $570K in Great Lakes restoration grants 3U-M Water Center awards $570K in Great Lakes restoration grants 4Evaluating a new way to open clogged arteries 2Evaluating a new way to open clogged arteries 3Resistance to last-line antibiotic makes bacteria resistant to immune system 2Resistance to last-line antibiotic makes bacteria resistant to immune system 3
... 2011Mary Ann Liebert, Inc., publishers ( http://www.liebertpub.com ) ... Technology , a highly innovative, bimonthly peer-reviewed journal ... the potential to significantly improve human health, well-being, ... innovative results, essential data, cutting-edge discoveries, thorough syntheses ...
... November 14, 2011 The possibility that functional, three-dimensional ... such as embryonic stem cells (ESCs) and induced pluripotent ... of stem cell research, but is also one of ... medicine. Developmental biology has played a central role in ...
... University Hospitals Case Medical Center researchers could still be ... not as they originally thought. LateTIME was a ... marrow that were believed to have the ability to ... the heart within two weeks of the attack. Results ...
Cached Biology News:New journal on disruptive science and technology launching in 2012 2Self-organized pituitary-like tissue from mouse ES cells 2Self-organized pituitary-like tissue from mouse ES cells 3Self-organized pituitary-like tissue from mouse ES cells 4Post heart attack recovery may not be aided by stem cell injections, but trial demonstrates promise 2
(Date:5/21/2013)... May 21, 2013 Vital Imaging ... University of California, San Diego for a joint study ... Gravitic™ MRI (Magnetic Resonance Imaging) with that of a ... its continued pursuit of improved healthcare by combining cutting ... is an extremely valuable tool for evaluating pathological changes ...
(Date:5/21/2013)... CA (PRWEB) May 21, 2013 Clinovo's ... is an 8-week training program starting on June 11th, ... help clinical trial professionals reach the next step in ... Dentons Offices in Palo Alto, and streamed online. , ... of award-winning papers, Clinovo's new “CDISC Standards: Theory and ...
(Date:5/20/2013)... 20, 2013 Today, at the American Psychiatric ... , James McGough , M.D., M.S., ... Semel Institute for Neuroscience and Human Behavior and ... the University of California Los Angeles (UCLA), and director ... Psychopharmacology and ADHD at UCLA, presented the results of ...
(Date:5/20/2013)... ROCKVILLE , Md. and BALTIMORE ... Inc. (BHI), a regional private-public partnership focusing ... to early-stage funding in Central Maryland ... Aiyar, Ph.D., M.B.A., as the first Entrepreneur-in-Residence (EIR) ... (NIH) National Heart, Lung and Blood Institute ...
Breaking Biology Technology:Vital Imaging Makes Greater Commitment into MRI Research 2Vital Imaging Makes Greater Commitment into MRI Research 3Clinovo Launches TechTrainings on CDISC Standards 2Positive Results Reported for Phase I Clinical Trial at UCLA for the Treatment of ADHD in Children Using External Trigeminal Nerve Stimulation (eTNS) 2Positive Results Reported for Phase I Clinical Trial at UCLA for the Treatment of ADHD in Children Using External Trigeminal Nerve Stimulation (eTNS) 3Positive Results Reported for Phase I Clinical Trial at UCLA for the Treatment of ADHD in Children Using External Trigeminal Nerve Stimulation (eTNS) 4Positive Results Reported for Phase I Clinical Trial at UCLA for the Treatment of ADHD in Children Using External Trigeminal Nerve Stimulation (eTNS) 5BioHealth Innovation, Inc. Names Ram Aiyar as Entrepreneur-in-Residence to NIH National Heart, Lung and Blood Institute 2BioHealth Innovation, Inc. Names Ram Aiyar as Entrepreneur-in-Residence to NIH National Heart, Lung and Blood Institute 3BioHealth Innovation, Inc. Names Ram Aiyar as Entrepreneur-in-Residence to NIH National Heart, Lung and Blood Institute 4
... - iCo Therapeutics Inc. (TSX-V: ICO) is pleased to ... This financing provides the company with sufficient capital to ... 1 clinical trial. iCo-007 is targeting the treatment of ... the company with additional working capital. iCo,s partner Isis ...
... Inc. (Nasdaq: VRUS ), a clinical ... commercializing novel drugs to treat viral infections, reported ... quarter ended December 31, 2008. Financial Results ... quarters ended December 31, 2008 and December 31, ...
... 9 Celsis In Vitro Technologies (Celsis,IVT), a ... science,products and laboratory services company, and Wisconsin-based Promega ... ADME-Tox testing in primary,hepatocytes. Celsis IVT is ... with Promega,s bioluminescent ADME-Tox assays, including,the P450-Glo(TM) CYP ...
Cached Biology Technology:iCo Therapeutics Closes $1.3 Million Private Placement 2iCo Therapeutics Closes $1.3 Million Private Placement 3Pharmasset Reports Fiscal First Quarter 2009 Financial Results 2Pharmasset Reports Fiscal First Quarter 2009 Financial Results 3Pharmasset Reports Fiscal First Quarter 2009 Financial Results 4Pharmasset Reports Fiscal First Quarter 2009 Financial Results 5Pharmasset Reports Fiscal First Quarter 2009 Financial Results 6Pharmasset Reports Fiscal First Quarter 2009 Financial Results 7Pharmasset Reports Fiscal First Quarter 2009 Financial Results 8Celsis In Vitro Technologies and Promega to Offer Fast, Reliable Solutions for ADME-Tox Testing With Primary Hepatocytes 2Celsis In Vitro Technologies and Promega to Offer Fast, Reliable Solutions for ADME-Tox Testing With Primary Hepatocytes 3
... for easy storage. Linkage: This CLS number is ... Cornings product number. If showing no availability yet, ... or contact customer service for assistance. ID clarifier: ... 55 cm 2 D H 100 ...
... Mixes are formulated for use in one-step ... Green. One-step QRT-PCR mixes offer a quick ... pipetting steps are minimised, making the protocol ... 2x ABsolute QRT-PCR Mix is supplied with ...
... wide variety of environmental and pathophysiological stressful ... of proteins known as heat shock proteins ... proteins (SRPs). The Hsp90 family of ... alpha and beta, Grp94, and Trap-1 (Hsp75). ...
... offers bespoke, cost-effective solutions for complex protein processing and ... and experience to help you develop a solution to ... , ... transfer all methodology to your ...
Biology Products: