Featured Research

from universities, journals, and other organizations

Pathology of Sanfilippo A syndrome: Research provides more insight

Date:
May 22, 2014
Source:
International Union of Crystallography
Summary:
Sanfilippo A syndrome is a rare genetic lysosomal storage disease inherited from the parents of the patient. Lysosomes are the body's vehicle for breaking down many of its by-products such as proteins, nucleic acids, carbohydrates, lipids and cellular debris. New research advances the knowledge of the structural features of sulfamidase in the context of this illness, and will greatly facilitate the discovery of suitable compounds and drugs to assist in managing the disease and its debilitating effects.

Sanfilippo A syndrome or Mucopolysaccharidosis IIIA (MPS-IIIA) is a rare genetic lysosomal storage disease inherited from the parents of the patient. Lysosomes are the body's vehicle for breaking down many of its by-products such as proteins, nucleic acids, carbohydrates, lipids and cellular debris. The spherical vesicles are known to contain 50 different enzymes which are all active around an acidic environment of about pH 5.

Related Articles


Whilst each lysosomal disorder results from different gene mutations that translate into a deficiency in enzyme activity, they all share a common biochemical characteristic, which is when the enzyme sulfamidase is present in too small an amount or is missing completely in the cell. When this occurs, substances usually broken down by the cell as unwanted matter accumulate in the cell, leading to severe problems.

Affected children of the disease show developmental delay, behavioural abnormalities such as hyperactivity, and signs of neurodegeneration such as progressive loss of cognitive and motor functions, cerebral convulsions and spastic quadriplegia.

About 80% of the genetic alterations in sulfamidase represent replacement of single amino acids that result in functional inactive enzyme mutants. However the molecular understanding of the effects of these mutations has been confined by a lack of structural data for this enzyme.

A group of scientists from Germany and Spain have been successful in resolving the crystal structure of sulfamidase which provides convincing evidence for the molecular consequences of these amino acid replacements and is fundamental for the development of successful structure-based drug design for this devastating neurodegenerative disorder.

Key features for the successful development of novel therapeutic molecules comprise their specific activity to increase residual enzymatic activity of sulfamidase mutants and their ability to pass the blood brain barrier.

The knowledge of the structural features of sulfamidase will greatly facilitate the discovery of suitable compounds and drugs to assist in managing the disease and its debilitating effects.


Story Source:

The above story is based on materials provided by International Union of Crystallography. The original article was written by Jonathan Agbenyega. Note: Materials may be edited for content and length.


Journal Reference:

  1. Navdeep S. Sidhu, Kathrin Schreiber, Kevin Pröpper, Stefan Becker, Isabel Usón, George M. Sheldrick, Jutta Gärtner, Ralph Krätzner, Robert Steinfeld. Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA. Acta Crystallographica Section D Biological Crystallography, 2014; 70 (5): 1321 DOI: 10.1107/S1399004714002739

Cite This Page:

International Union of Crystallography. "Pathology of Sanfilippo A syndrome: Research provides more insight." ScienceDaily. ScienceDaily, 22 May 2014. <www.sciencedaily.com/releases/2014/05/140522105134.htm>.
International Union of Crystallography. (2014, May 22). Pathology of Sanfilippo A syndrome: Research provides more insight. ScienceDaily. Retrieved December 19, 2014 from www.sciencedaily.com/releases/2014/05/140522105134.htm
International Union of Crystallography. "Pathology of Sanfilippo A syndrome: Research provides more insight." ScienceDaily. www.sciencedaily.com/releases/2014/05/140522105134.htm (accessed December 19, 2014).

Share This


More From ScienceDaily



More Plants & Animals News

Friday, December 19, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Navy Unveils Robot Fish

Navy Unveils Robot Fish

Reuters - Light News Video Online (Dec. 18, 2014) — The U.S. Navy unveils an underwater device that mimics the movement of a fish. Tara Cleary reports. Video provided by Reuters
Powered by NewsLook.com
Kids Die While Under Protective Services

Kids Die While Under Protective Services

AP (Dec. 18, 2014) — As part of a six-month investigation of child maltreatment deaths, the AP found that hundreds of deaths from horrific abuse and neglect could have been prevented. AP's Haven Daley reports. (Dec. 18) Video provided by AP
Powered by NewsLook.com
When You Lose Weight, This Is Where The Fat Goes

When You Lose Weight, This Is Where The Fat Goes

Newsy (Dec. 17, 2014) — Can fat disappear into thin air? New research finds that during weight loss, over 80 percent of a person's fat molecules escape through the lungs. Video provided by Newsy
Powered by NewsLook.com
The Hottest Food Trends for 2015

The Hottest Food Trends for 2015

Buzz60 (Dec. 17, 2014) — Urbanspoon predicts whicg food trends will dominate the culinary scene in 2015. Mara Montalbano (@maramontalbano) has the story. Video provided by Buzz60
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

 

Plants & Animals

Earth & Climate

Fossils & Ruins

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