Navigation Links
Scientists provide insight into the pathology of Sanfilippo A syndrome
Date:5/22/2014

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.

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 [Sidhu et al, Acta Cryst. (2014), D70, 1321-1335 doi:10.1107/S1399004714002739] 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.


'/>"/>

Contact: ja@IUCr.org
ja@iucr.org
0044-124-434-2878
International Union of Crystallography
Source:Eurekalert  

Related biology news :

1. Stanford scientists develop gene therapy approach to grow blood vessels in ischemic limbs
2. Queens scientists seek vaccine for Pseudomonas infection
3. Scientists produce eye structures from human blood-derived stem cells
4. American Society of Plant Biologists honors early career women scientists
5. Brandeis scientists win prestigious prize for circadian rhythms research
6. Scientists discover new method of proton transfer
7. Salk scientists open new window into how cancers override cellular growth controls
8. WileyChina.com - Now Featuring Bespoke Pages for China’s Life Scientists
9. Scientists win $2 million to study new pathway in development and maintenance of lymphoma
10. UGA scientists reveal genetic mutation depicted in van Goghs sunflower paintings
11. Genetic mutation depicted in van Goghs sunflower paintings revealed by scientists
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Scientists provide insight into the pathology of Sanfilippo A syndrome
(Date:3/3/2020)... ... March 03, 2020 , ... Amplify Surgical, Inc., today announces that the company ... System. , The landmark case was performed by Dr. Ali Najafi at ... noted, “dualX has completely changed the game for expandable interbodies. The ability to ...
(Date:3/2/2020)... ... March 02, 2020 , ... ... annual Pittsburgh Conference on Analytical Chemistry and Applied Spectroscopy ( Pittcon 2020 ), ... is the world’s leading annual conference and exposition on laboratory science, attracting attendees ...
(Date:2/28/2020)... ... February 27, 2020 , ... ... portfolio company. Established to develop and commercialize a manufacturing platform for the ... State University (NMSU). The patent-pending technology results in membranes with controllable pore ...
Breaking Biology News(10 mins):
(Date:2/19/2020)... ... February 18, 2020 , ... Shoreline Biome, ... to the strain level, recently unveiled a novel DNA isolation product. , Shoreline ... isolation of high molecular weight (HMW) single-stranded DNA (ssDNA) in excess of 40 ...
(Date:2/13/2020)... ... , ... Arriello , a provider of market access, ... Safety™ as part of the company’s continued growth in pharmacovigilance operations. , ... information such as SUSARs and ICSRS, aggregate report production, signal management, and management ...
(Date:2/10/2020)... (PRWEB) , ... February 10, 2020 , ... R3 Medical ... Course March 13-14th, 2020 in Las Vegas. The course is hands on involving ... , For the past few years, the Comprehensive Stem Cell Training Course has received ...
(Date:2/3/2020)... ... 03, 2020 , ... Ovation Travel Group has ... Industry Travel and Biotech/Healthcare Industry Travel Indexes. , All of the Indexes contain ... Average airfare price paid Domestically, Internationally and Overall ...
Breaking Biology Technology: