Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

New discovery prevents symptoms of rare genetic disorder

03.12.2010
A new study offers hope for children born with a rare genetic disease, according to a paper published by the American Association for the Advancement of Science.

The research was led by Dr. Matthew Ellinwood, a veterinarian and animal science professor at Iowa State University, in collaboration with Dr. Patricia Dickson at the Harbor-UCLA Medical Center, with colleagues at the Iowa State College of Veterinary Medicine, the University of Tennessee, St. Louis University and the University of Pennsylvania. Their work was published in the AAAS journal Science Translational Medicine.

The research focused on a disorder called mucopolysaccharidosis type I, or MPS I, which is caused by the lack of a key enzyme that breaks down substances the body needs to help build normal nerves, bone, cartilage, tendons, corneas, skin and connective tissue.

The researchers demonstrated that beginning replacement of the enzyme shortly after birth prevented irreversible damage caused by the disease. Previous studies on older subjects were only able to reduce MPS I symptoms with enzyme replacement therapy. Especially important was the prevention of clinical signs of brain, heart and bone disease.

“This study, for the first time, outlines the potential to fully treat mucopolysaccharidosis type I using current technology and medicines, and prevent what might otherwise be the fatal or seriously debilitating consequence of this inherited disease,” Ellinwood said.

“This study will strengthen the need and demand for neo-natal screening for this rare disorder. Overall, we feel our discoveries outline tremendous improvements for the treatment of these sorts of rare genetic disorders generally and for the treatment of MPS I specifically,” said Ellinwood, who has been studying the disease for 12 years in dogs, which also suffer from the disorder.

His past work helped identify a genetic mutation that led to a DNA testing program for the Schipperke dog breed that has for all practical purposes eliminated the disease.

There is no cure for severe forms of MPS I and similar disorders, which are collectively known as lysosomal storage diseases. Symptoms include clouding of eye corneas, skeletal deformities, heart valve disease and severe cognitive impairment and decline.

The research opens the door to improved methods of enzyme delivery in human patients with similar genetic disorders. It also suggests that babies could be tested for MPS I at the same time they are tested for other inherited diseases to determine if they need the enzyme replacement therapy.

“There is a test under development to identify children with MPS I at birth, allowing them access to treatment when it could do the most good. Currently, diagnosis is usually made after clinical signs of disease have already begun, and the rarity of the condition makes pre-natal diagnosis impractical,” Ellinwood said.

MPS and related diseases are hereditary and almost without exception they are recessive, with a child receiving one mutant copy of the gene from each parent. Due to the recessive nature of the disease parents are unaffected, and have no way of knowing if they are carriers.

More information on these often fatal disorders is available from the National MPS Society Inc. website (http://www.mpssociety.org). The occurrence of MPS and related diseases in the general population is thought to be one in 25,000 births. The broader group of lysosomal storage diseases may occur as often as one in every 5,000 births.

More information about Ellinwood's work is available at: http://www.iastate.edu/Inside/2005/0415/ellinwood.shtml

Contacts
Matthew Ellinwood, Animal Science, (515) 294-5136, mellinwo@iastate.edu
Ed Adcock, Agriculture and Life Sciences Communication Service, (515) 294-2314, edadcock@iastate.edu

Matthew Ellinwood | EurekAlert!
Further information:
http://www.iastate.edu

More articles from Life Sciences:

nachricht Nesting aids make agricultural fields attractive for bees
20.07.2017 | Julius-Maximilians-Universität Würzburg

nachricht The Kitchen Sponge – Breeding Ground for Germs
20.07.2017 | Hochschule Furtwangen

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Manipulating Electron Spins Without Loss of Information

Physicists have developed a new technique that uses electrical voltages to control the electron spin on a chip. The newly-developed method provides protection from spin decay, meaning that the contained information can be maintained and transmitted over comparatively large distances, as has been demonstrated by a team from the University of Basel’s Department of Physics and the Swiss Nanoscience Institute. The results have been published in Physical Review X.

For several years, researchers have been trying to use the spin of an electron to store and transmit information. The spin of each electron is always coupled...

Im Focus: The proton precisely weighted

What is the mass of a proton? Scientists from Germany and Japan successfully did an important step towards the most exact knowledge of this fundamental constant. By means of precision measurements on a single proton, they could improve the precision by a factor of three and also correct the existing value.

To determine the mass of a single proton still more accurate – a group of physicists led by Klaus Blaum and Sven Sturm of the Max Planck Institute for Nuclear...

Im Focus: On the way to a biological alternative

A bacterial enzyme enables reactions that open up alternatives to key industrial chemical processes

The research team of Prof. Dr. Oliver Einsle at the University of Freiburg's Institute of Biochemistry has long been exploring the functioning of nitrogenase....

Im Focus: The 1 trillion tonne iceberg

Larsen C Ice Shelf rift finally breaks through

A one trillion tonne iceberg - one of the biggest ever recorded -- has calved away from the Larsen C Ice Shelf in Antarctica, after a rift in the ice,...

Im Focus: Laser-cooled ions contribute to better understanding of friction

Physics supports biology: Researchers from PTB have developed a model system to investigate friction phenomena with atomic precision

Friction: what you want from car brakes, otherwise rather a nuisance. In any case, it is useful to know as precisely as possible how friction phenomena arise –...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

»We are bringing Additive Manufacturing to SMEs«

19.07.2017 | Event News

The technology with a feel for feelings

12.07.2017 | Event News

Leipzig HTP-Forum discusses "hydrothermal processes" as a key technology for a biobased economy

12.07.2017 | Event News

 
Latest News

Researchers create new technique for manipulating polarization of terahertz radiation

20.07.2017 | Information Technology

High-tech sensing illuminates concrete stress testing

20.07.2017 | Materials Sciences

First direct observation and measurement of ultra-fast moving vortices in superconductors

20.07.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>