Featured Research

from universities, journals, and other organizations

Research supports newborn screening and early treatment for rare genetic disorder, MPS I

Date:
December 1, 2010
Source:
Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center (LA BioMed)
Summary:
In a study that supports the need for newborn screening and early treatment for a rare genetic disorder, researchers have found enzyme replacement therapy beginning at birth eliminated almost all of the symptoms associated with mucopolysaccharidosis type I, or MPS I, in animal models.

In a study that supports the need for newborn screening and early treatment for a rare genetic disorder, researchers at Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center (LA BioMed) and Iowa State University found enzyme replacement therapy beginning at birth eliminated almost all of the symptoms associated with mucopolysaccharidosis type I, or MPS I, in animal models.

The study, which was published in the journal Science Translational Medicine, is the first to show that early treatment with enzyme replacement therapy for MPS I can significantly lessen disease symptoms in the heart, bones and brain. The researchers also found that treating at a higher dose, when begun at birth, significantly improved the response to enzyme replacement therapy, and that direct treatment into the spinal fluid resulted in a significant improvements in brain pathology.

"People with MPS I currently suffer from disease in the heart, bones, and brain, despite state-of-the-art care. Our research shows that with early intervention, these problems can be almost completely prevented," said Patricia Dickson, MD, a LA BioMed principal investigator and co-author of the study. "We found that treatment from birth with enzyme replacement therapy significantly improved outcomes, a finding that should be a huge boost to efforts to include MPS I in the diagnostic screening already performed on every newborn in the U.S."

MPS I is an inherited genetic disorder that affects many body systems. It is caused by a defect in the gene that makes an enzyme called alpha-L-iduronidase. Because of this defect, cells either produce the enzyme in low amounts or cannot produce it at all. The enzyme is needed to break down substances called "glycosaminoglycans," which are by-products of chemical reactions in the body's cells. If glycosaminoglycans are not broken down, they build up in the cell, eventually leading to cell, tissue and organ damage.

Currently, there is no cure for these disorders. But enzyme replacement therapy first developed at LA BioMed is able to give the missing enzyme back to the patient through an injection. In the study published today, the use of the alpha-L-iduronidase enzyme at birth in animal models with MPS I prevented nearly every aspect of MPS I disease, including in the brain. Previous studies performed on older patients were only able to incompletely reduce MPS I symptoms with enzyme replacement therapy.

The early treatment prevented the build-up of lysosomal substances in the liver, spleen, lungs, kidneys and heart, suggesting that enzyme replacement therapy could potentially eliminate the symptoms of MPS I in babies before the symptoms start.

"Most of our patients are diagnosed with MPS I only after they begin to manifest symptoms, so enzyme replacement therapy begins after they've already suffered damage from the disorder," said Dr. Dickson. "A test for identifying children with MPS I at birth already exists, and it will soon be possible to add the test to the newborn screening performed in hospitals around the country to identify other genetic disorders. While MPS I in itself is rare, our study implies that early treatment may have substantial benefit for the class of problems called lysosomal storage disorders, which -- taken together -- occur in one out of every 5,000 babies born in the U.S."

Funding for the study came from the National Institutes of Health, Ryan Foundation, Center for Integrated Animal Genomics and State of Iowa Board of Regents Battelle Platform and Infrastructure Grants Program. The study was conducted by Dr. Dickson and colleagues at LA BioMed and Ashley Dierenfeld and Matthew Ellinwood and colleagues at Iowa State University.


Story Source:

The above story is based on materials provided by Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center (LA BioMed). Note: Materials may be edited for content and length.


Journal Reference:

  1. A. D. Dierenfeld, M. F. McEntee, C. A. Vogler, C. H. Vite, A. H. Chen, M. Passage, S. Le, S. Shah, J. K. Jens, E. M. Snella, K. L. Kline, J. D. Parkes, W. A. Ware, L. E. Moran, A. J. Fales-Williams, J. A. Wengert, R. D. Whitley, D. M. Betts, A. M. Boal, E. A. Riedesel, W. Gross, N. M. Ellinwood, P. I. Dickson. Replacing the Enzyme -L-Iduronidase at Birth Ameliorates Symptoms in the Brain and Periphery of Dogs with Mucopolysaccharidosis Type I. Science Translational Medicine, 2010; 2 (60): 60ra89 DOI: 10.1126/scitranslmed.3001380

Cite This Page:

Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center (LA BioMed). "Research supports newborn screening and early treatment for rare genetic disorder, MPS I." ScienceDaily. ScienceDaily, 1 December 2010. <www.sciencedaily.com/releases/2010/12/101201142459.htm>.
Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center (LA BioMed). (2010, December 1). Research supports newborn screening and early treatment for rare genetic disorder, MPS I. ScienceDaily. Retrieved July 24, 2014 from www.sciencedaily.com/releases/2010/12/101201142459.htm
Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center (LA BioMed). "Research supports newborn screening and early treatment for rare genetic disorder, MPS I." ScienceDaily. www.sciencedaily.com/releases/2010/12/101201142459.htm (accessed July 24, 2014).

Share This




More Plants & Animals News

Thursday, July 24, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Dogs Appear To Become Jealous Of Owners' Attention

Dogs Appear To Become Jealous Of Owners' Attention

Newsy (July 23, 2014) A U.C. San Diego researcher says jealousy isn't just a human trait, and dogs aren't the best at sharing the attention of humans with other dogs. Video provided by Newsy
Powered by NewsLook.com
Professor Creates Site Revealing Where People's Cats Live

Professor Creates Site Revealing Where People's Cats Live

Newsy (July 23, 2014) ​It's called I Know Where Your Cat Lives, and you can keep hitting the "Random Cat" button to find more real cats all over the world. Video provided by Newsy
Powered by NewsLook.com
Stone Fruit Listeria Scare Causes Sweeping Recall

Stone Fruit Listeria Scare Causes Sweeping Recall

Newsy (July 22, 2014) The Wawona Packing Company has issued a voluntary recall on the stone fruit it distributes due to a possible Listeria outbreak. Video provided by Newsy
Powered by NewsLook.com
Michigan Plant's Goal: Flower and Die

Michigan Plant's Goal: Flower and Die

AP (July 22, 2014) An 80-year-old agave plant, which is blooming for the first and only time at a University of Michigan conservatory, will die when it's done (July 22) Video provided by AP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins