Navigation Links
New marker found for Sanfilippo disease
Date:2/28/2011

Sanfilippo disease is a rare disorder caused by the failure of enzymes to break down specific kinds of complex carbohydrates, resulting in their accumulation in cells and often severe physical and neurological problems and sometimes early death.

In a paper published in the March 4 issue of the Journal of Biological Chemistry, researchers at the University of California, San Diego School of Medicine, led by Jeffrey D. Esko, PhD, professor in the Department of Cellular and Molecular Medicine, describe the build-up of a novel secondary metabolite in Sanfilippo disease, a discovery that could improve understanding of the disease's pathology and refine diagnostic techniques.

Sanfilippo is one of a group of genetically inherited metabolic disorders called mucopolysaccharidoses, all of which involve the inability of different lysosomal enzymes to catabolize or break down glycosaminoglycans complex sugar carbohydrates that help cells build skin, bone, cartilage, tendons and connective tissues.

"It's a very ordered sequence of degradation," said Esko, co-director of the Glycobiology Research and Training Center at UC San Diego. "Interference with any of the steps in the enzymatic process results in an accumulation of metabolites, which causes lyosomal dysfunction. Cells become constipated, leading to internal changes and dysfunction."

For patients with severe mucopolysaccharidosis, the consequences can be catastrophic. As incompletely degraded glycosaminoglycans accumulate in cells and tissues, they cause permanent, progressive damage that affects appearance, physical abilities, organ function and, most profoundly, mental development. Children with the disease can experience severe neuropathology and significant early mortality. It's estimated that 1 in 25,000 children in the United States have one of several forms of the disease. Some mucopolysaccharidoses can be temporarily treated with enzyme replacement therapies, but the body's blood-brain barrier blocks neurological benefit. There is no current cure.

"The three approved drugs on the market mask the genetic defect by supplementing the missing enzymes," said Esko. "They can help resolve storage in many organs, but not the brain because the enzymes do not cross the barrier. And they are very, very expensive."

In the new research, Esko and colleague William C. Lamanna, PhD, studied enzymatic activity in Sanfilippo patient fibroblasts, a type of cell most commonly found in connective tissues. They noted that defective enzymatic activity resulted in the accumulation of not just a glycosaminoglycan called heparan sulfate, but also a secondary metabolite called dermatan sulfate. Sanfilippo cells had levels of dermatan sulfate two- to five-fold higher than normal.

The combined accumulation of heparan sulfate with dermatan sulfate, researchers said, may explain some of the distinct pathological features of Sanfilippo disease. The emergence of dermatan sulfate as an additional biomarker for Sanfilippo disease could be useful in detection and diagnosis, though Esko said studies using patient tissue biopsies or blood or urine samples remain to be conducted.

"Right now, this discovery probably won't change the current therapy for Sanfilippo" said Lamanna, "but it does improve what we know about how the disease works and how to diagnose it."


'/>"/>

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

Related medicine news :

1. Biomarker discovery may lead to reliable blood test for ectopic pregnancy
2. Trial suggests statin may affect markers associated with progression of HIV
3. A diagnostic marker in hepatocellular carcinoma
4. Biomarker test shows promise for melanoma diagnosis
5. deCODE discovers genetic markers that improve the power of PSA testing for detecting prostate cancer
6. Genomic markers may head off thousands of thyroid surgeries
7. Biomarker may be able to help predict risk of heart failure, cardiovascular death
8. Urine Markers May Reveal Kidney Damage Earlier
9. Prognostic markers for prostate cancer patients who receive radiation after surgery
10. Haptoglobin as an early serum biomarker of virus-induced type 1 diabetes in rats
11. New Tumor Marker May Improve Cancer Detection: Study
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
New marker found for Sanfilippo disease
(Date:5/31/2016)... ... May 31, 2016 , ... To ... solutions to the healthcare industry, The University of Scranton is adding a Certificate ... path to a career in rapidly growing field of healthcare information. , ...
(Date:5/30/2016)... ... May 30, 2016 , ... As the CDC relaxes its ... and their efforts to keep their households lice free. , According to a ... new policies that keep kids in the classroom despite the fact that they may ...
(Date:5/30/2016)... ... 30, 2016 , ... Shaolin Institute officially starts the annual ... intensive summer training camp starts on June 17th on Shaolin Institute Atlanta Campus. ... a fun and unique experience with an opportunity to learn KungFu martial arts ...
(Date:5/29/2016)... ... May 29, 2016 , ... Whole Health Supply is happy to announce ... clipper is available to the public. This is an unusual clipper because it opens ... average clipper. , Everything about this product is concentrated on ease of use, functionality ...
(Date:5/28/2016)... Aliso Viejo, California (PRWEB) , ... May 28, 2016 , ... ... just need to drag and drop a preset onto their media," said Christina Austin ... from Pixel Film Studios, editors can quickly and easily add stylish color grades to ...
Breaking Medicine News(10 mins):
(Date:5/30/2016)... BANGALORE , May 30, 2016 - ... Limb Ischemia due to Buerger,s disease - Stempeucel® becomes ... body, anywhere in the world - Buerger,s Disease (also ... India and Globally - Prevalence ... India and 2 per 10,000 persons in the European ...
(Date:5/27/2016)... 27, 2016  A new study highlights the necessity of health literacy within the ... the American College of Radiology , a majority of oncology patients undergo imaging screenings ... http://photos.prnewswire.com/prnh/20160527/373022 ... ... Medical Diagnostic Imaging Ampronix ...
(Date:5/27/2016)... -- Hutchison China MediTech (Chi-Med) (HCM) ... highly lucrative global oncology and immunology markets. HCM ... or best-in-class tyrosine kinase inhibitor (TKI) drugs, some ... HCM,s profitable Chinese healthcare business continues to benefit ... of the mid-to-late-stage pipeline during 2016-17 (including US ...
Breaking Medicine Technology: