HOME >> BIOLOGY >> NEWS
Mutations in transporter protein shed light on neurodegenerative disorders

Bethesda, MD Researchers at Stanford University have made new discoveries that shed light on two inherited neurodegenerative disorders that are caused by inability of the body to transport sialic acid out of cellular compartments. The findings focus on how different mutations in one transporter molecule can cause a wide spectrum of symptoms in Salla Disease and infantile sialic acid storage disease (ISSD).

The research appears as the "Paper of the Week" in the January 14 issue of the Journal of Biological Chemistry, an American Society for Biochemistry and Molecular Biology journal.

The free sialic acid storage diseases are a range of rare, autosomal recessive, neurodegenerative disorders that result from the accumulation of sialic acid within lysosomes. There are two forms of the disease--Salla Disease, the milder form, and the more severe infantile sialic acid storage disease (ISSD).

"Clinically, these diseases consist of a spectrum," notes Dr. Richard J. Reimer of Stanford University. "In the severe phenotype infants are born with dysmorphic features, enlarged internal organs and die within a few months. With the milder disease the affected individuals have physical and mental developmental delay, but can live to adulthood."

In Salla Disease and ISSD, the amino sugar sialic acid accumulates in lysosomes, the cellular compartments that are responsible for degrading macromolecules. "Sialic acid is part of a number of proteins and normally it is removed from proteins as they are degraded in lysosomes," explains Dr. Reimer. "The free sialic acid is then released into the cytoplasm of the cell so that it can be reincorporated in to newly synthesized proteins. In Salla Disease and ISSD, the sialic acid is removed from the protein, but it is not released from the lysosome."

Genetic studies have shown that mutations in a single gene encoding a protein called sialin are responsible for both diseases. "The mil
'"/>

Contact: Nicole Kresge
nkresge@asbmb.org
301-634-7415
American Society for Biochemistry and Molecular Biology
7-Jan-2005


Page: 1 2

Related biology news :

1. Mutations point the way to new leukemia drugs
2. Mutations in the BRAF gene predict sensitivity to a novel class of cancer drugs
3. Mutations in NOTCH1 gene cause aortic valve disease
4. Mutations in transporter protein effect HDL levels in the general population
5. New study reveals structure of E. coli multidrug transporter protein
6. New measurements prove myosin VI can act as molecular transporter
7. New finding in studying dopamine transporter
8. Examining the serotonin transporter gene and family function
9. Penn researchers discover how key protein stops inflammation
10. UCF research links proteins, stem cells and potential Alzheimers treatment
11. Teamwork between 2 key proteins necessary for normal development and regulation of red blood cells

Post Your Comments:
(Date:7/30/2014)... protection from HIV infection could be as simple as ... , University of Washington bioengineers have discovered a ... protects women from contracting HIV. Their method spins the ... contact with moisture, releasing higher doses of the drug ... or creams. , "This could offer women a potentially ...
(Date:7/30/2014)... Long before humans figured out how to create colors, ... bright butterfly wings of many different hues, for example. ... a more environmentally friendly way to make colored plastics. ... and architectures of materials rather than dyes, to ... Letters . , N. Asger Mortensen, Anders Kristensen and ...
(Date:7/30/2014)... Steven Chown has been awarded the Scientific Committee ... in Antarctic Research. , SCAR, an inter-disciplinary international ... international scientific research in the Antarctic region, and ... the Earth system. The organisation also provides scientific ... responsible for governing the region. , The medal ...
Breaking Biology News(10 mins):Dissolvable fabric loaded with medicine might offer faster protection against HIV 2Dissolvable fabric loaded with medicine might offer faster protection against HIV 3
(Date:7/30/2014)... 30, 2014 Sales Horizons, a leader ... blended sales training programs for companies engaged in complex ... used by thousands of salespeople over 25 years in ... program can be customized to address the unique sales ... blended sales training program consists of two parts: ...
(Date:7/30/2014)... July 30, 2014 With the ... of personal health expenditure as well as the ... system, China diagnostic reagent industry has been developing ... 90%. In 2013, Chinese in vitro diagnostics market ... came from in vitro diagnostic reagents. , ...
(Date:7/30/2014)... BCC Research ( http://www.bccresearch.com ) reveals ... in Industrial Applications , the global market for industrial ... by 2018, registering a five-year compound annual growth rate ... recorded in the detergent enzyme segment with a CAGR ... has influenced almost every sector of industrial activity, ranging ...
(Date:7/30/2014)... July 30, 2014 Yuma Regional ... and complementary therapies brings comprehensive cancer care to ... Yuma Regional Cancer Center has officially opened. A ... program includes services such as open, semi-private and ... American Cancer Society Resource Center, hematology, rehabilitation center, ...
Breaking Biology Technology:Sales Horizons Launches New Blended Sales Training Programs to Companies Engaged in Complex B2B Sales 2Sales Horizons Launches New Blended Sales Training Programs to Companies Engaged in Complex B2B Sales 3China Diagnostic Reagent Industry Report, 2013-2016 | Researchmoz 2China Diagnostic Reagent Industry Report, 2013-2016 | Researchmoz 3Global Market for Industrial Enzymes to Reach Nearly $7.1 Billion by 2018; Detergent Enzyme Market to Record Maximum Growth 2Global Market for Industrial Enzymes to Reach Nearly $7.1 Billion by 2018; Detergent Enzyme Market to Record Maximum Growth 3Sate-of-the-Art Yuma Regional Cancer Center Officially Opens 2
Cached News: