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:12/20/2016)... and GENEVA, Dec, 20, 2016   Valencell ... sensor technology, and STMicroelectronics (NYSE: STM), a ... of electronics applications, announced today the launch of ... for biometric wearables that includes ST,s compact ... Valencell,s Benchmark™ biometric sensor system. Together, SensorTile ...
(Date:12/16/2016)... Research and Markets has announced the addition of the ... report to their offering. ... The biometric vehicle access system market, in terms ... from 2016 to 2021. The market is estimated to be USD ... by 2021. The growth of the biometric vehicle access system market ...
(Date:12/15/2016)... --  WaferGen Bio-systems, Inc. (NASDAQ: WGBS ... that on December 13, 2016, it received a letter ... Market LLC which acknowledged that, as of December 12, ... had been at $1.00 or greater for ten consecutive ... Rule 5550(a)(2) of the Nasdaq Stock Market. ...
Breaking Biology News(10 mins):
(Date:1/19/2017)... ... January 18, 2017 , ... The American Medical Informatics Association ... Data Sharing Policy. Specifically, the nation’s leading informatics experts, said data sharing plans ... policy. AMIA recommended that NIH earmark funding for researchers to produce and execute ...
(Date:1/19/2017)... 18, 2017 The global biotechnology services ... billion by 2025, according to a new report ... been adaptive of the function of outsourcing certain ... Among the services outsourced, clinical trial management and ... & Johnson was the first pharmaceutical company to ...
(Date:1/18/2017)... ... January 18, 2017 , ... ... interconnect using USB or PCI Express, announced the ZEM5310 USB 3.0 FPGA Module, ... into a compact business-card sized form factor suitable for prototyping, testing, and production-ready ...
(Date:1/18/2017)... , Jan. 18, 2017   Parent Project ... fight to end Duchenne muscular dystrophy (Duchenne) , ... the New Jersey Institute of Technology (NJIT) and Talem ... exploration of robotic technology to assist people living ... incorporate NJIT,s technology – an embedded computer, software, a ...
Breaking Biology Technology:
Cached News: