Featured Research

from universities, journals, and other organizations

Very early treatment may be key to combatting inherited metabolic disorder

Date:
August 4, 2014
Source:
Wiley
Summary:
It is critical to treat lysosomal storage disorders early, before symptoms arise, a new study concludes. These genetic disorders, which are caused by the malfunction of enzymes that normally degrade various substances within cells, lead to numerous ailments including neurological problems.

Representative images of GM3 (A–C), LIMP II (D–F), GFAP (G–I), isolectin Bandieraea (Griffonia) simplicifolia (BSI-B4) (J–L) and ubiquitin (M–O) staining in the inferior colliculus of 6-week-old normal (A, D, G, J and M), MPS IIIA (B, E, H, K and N) and MPS IIIA + enzyme-treated (C, F, I, L and O) mice. The rhSGSH injection was administered at 3 weeks of age and images were taken at 3 weeks post-injection, i.e. at 6 weeks of age. Scale bar: image, 50 μm; inset, 5 μm (A–O).
Credit: Image courtesy of Wiley

A European Journal of Neuroscience study suggests that it is critical to treat lysosomal storage disorders early, before symptoms arise. These genetic disorders, which are caused by the malfunction of enzymes that normally degrade various substances within cells, lead to numerous ailments including neurological problems.

Although few therapeutic options are available, clinical trials of treatments including lysosomal enzyme replacement are underway. Researchers who used enzyme replacement to treat mice with early, mid- and later-stages of a lysosomal storage disease found that treatment was most effecting in mice with very early-stage disease. Once symptoms arose, treatment was ineffective.

"Until newborn screening is available world-wide for these conditions, and children are diagnosed prior to symptoms appearing, it is critical that we continue to gather information regarding the reversibility, or not, of disease-based degenerative changes," said senior author Dr. Kim Hemsley.


Story Source:

The above story is based on materials provided by Wiley. Note: Materials may be edited for content and length.


Journal Reference:

  1. Sofia Hassiotis, Helen Beard, Amanda Luck, Paul J. Trim, Barbara King, Marten F. Snel, John J. Hopwood, Kim M. Hemsley. Disease stage determines the efficacy of treatment of a paediatric neurodegenerative disease. European Journal of Neuroscience, 2014; 39 (12): 2139 DOI: 10.1111/ejn.12557

Cite This Page:

Wiley. "Very early treatment may be key to combatting inherited metabolic disorder." ScienceDaily. ScienceDaily, 4 August 2014. <www.sciencedaily.com/releases/2014/08/140804123315.htm>.
Wiley. (2014, August 4). Very early treatment may be key to combatting inherited metabolic disorder. ScienceDaily. Retrieved October 1, 2014 from www.sciencedaily.com/releases/2014/08/140804123315.htm
Wiley. "Very early treatment may be key to combatting inherited metabolic disorder." ScienceDaily. www.sciencedaily.com/releases/2014/08/140804123315.htm (accessed October 1, 2014).

Share This



More Mind & Brain News

Wednesday, October 1, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Do Video Games Trump Brain Training For Cognitive Boosts?

Do Video Games Trump Brain Training For Cognitive Boosts?

Newsy (Sep. 29, 2014) — More and more studies are showing positive benefits to playing video games, but the jury is still out on brain training programs. Video provided by Newsy
Powered by NewsLook.com
Your Spouse's Personality May Influence Your Earnings

Your Spouse's Personality May Influence Your Earnings

Newsy (Sep. 26, 2014) — Research from Washington University suggest people with conscientious spouses have greater career success. Video provided by Newsy
Powered by NewsLook.com
Can A Blood Test Predict Psychosis Risk?

Can A Blood Test Predict Psychosis Risk?

Newsy (Sep. 26, 2014) — Researchers say certain markers in the blood can predict risk of psychosis later in the life. The test can aid in early treatment for the condition. Video provided by Newsy
Powered by NewsLook.com
Harpist Soothes Gorillas, Orangutans With Music

Harpist Soothes Gorillas, Orangutans With Music

AP (Sep. 25, 2014) — Teri Tacheny, a harpist, has a loyal following of fans who appreciate her soothing music. Every month, gorillas, orangutans and monkeys amble down to hear her play at the Como Park Zoo in Minnesota. (Sept. 25) 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:

Strange & Offbeat Stories

 

Health & Medicine

Mind & Brain

Living & Well

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