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:
*Name:
*Comment:
*Email:


(Date:2/21/2017)... PORTLAND, Ore. , Feb. 22, 2017 /PRNewswire/ ... of Companies (Avamere Health Services, Infinity Rehab, Signature Hospice, ... study that will apply the power of IBM cognitive ... and health centers. By analyzing data streaming from sensors ... into physical and environmental conditions, and obtain deeper learnings ...
(Date:2/16/2017)... , Feb. 16, 2017  Genos, a community ... that it has received Laboratory Accreditation from the ... is presented to laboratories that meet stringent requirements ... scientifically rigorous processes. "Genos is committed ... laboratory practices. We,re honored to be receiving CAP ...
(Date:2/13/2017)... SAN FRANCISCO , Feb. 13, 2017 /PRNewswire/ ... a centralized platform that is designed to enhance ... the latest release in the RSA Fraud & ... to enable organizations to leverage additional insights from ... anti-fraud tools to better protect their customers from ...
Breaking Biology News(10 mins):
(Date:3/22/2017)... , March 22, 2017   Boston Biomedical ... cancer therapeutics designed to target cancer stemness pathways, today ... S. Andrews as Chief Executive Officer, effective April ... Chiang J. Li , M.D., FACP, who has ... years ago. Under his leadership, Boston Biomedical has grown ...
(Date:3/22/2017)... ... March 21, 2017 , ... Premier executive recruitment firm, Slone Partners, ... Firm by Hunt Scanlon Media. , Hunt Scanlon Media is one of ... referenced global news source in the human capital sector. , “It is a great ...
(Date:3/22/2017)... ... March 21, 2017 , ... Proper glycosylation is critical ... desired increase and/or decrease in antibody-dependent cellular cytotoxicity or complement-dependent cytotoxicity, there is ... antibodies. , To meet this demand, the team at SCIEX has developed ...
(Date:3/22/2017)... ... March 21, 2017 , ... Aqua Design Innovations (ADI) ... and raising over $30,000 in the first 40 minutes of crowdfunding. EcoQube is ... fast, easy, and affordably, anywhere. , “Simply add fertilized water and in less ...
Breaking Biology Technology:
Cached News: