HOME >> BIOLOGY >> NEWS
A genetic model for hereditary spastic paraplegia (HSP) disease

Hereditary spastic paraplegia (HSP) is a devastating motor disorder that relegates patients to walkers and, in more severe cases, wheelchairs. In work reported this week, researchers have taken our understanding of HSP to a new level with the development of an animal model for the disease. The findings suggest that, in many cases, HSP may result from the improper regulation of microtubules, which make up a large part of a nerve cell's scaffolding. This could explain why the specific nerve cells that are preferentially affected in HSP those that send signals from the brain's cerebral cortex to the motor neurons that initiate muscle contractions show a progressive dysfunction that culminates in degeneration.

Genetic anomalies in more than 20 different genes have been associated with HSP, but mutations in one gene in particular, SPG4, are responsible for more than 40% of all cases. SPG4 encodes a protein called spastin, which previous research has shown to destabilize microtubules, the tiny hollow protein tubes that originate near the nucleus and extend into the long processes of neurons. Through their interactions with other proteins, microtubules essentially represent the dynamic scaffolding of the nerve cell. In neurons, microtubules' responsibilities include carrying cellular components to distant regions of the cell, regulating the growth of neuronal branches, and providing a substrate for important protein interactions. Microtubules grow and shrink, and their stability at a given time and place can be regulated by other proteins to facilitate specific cellular functions.

The new research, from the laboratories of Dr. Kendal Broadie (Vanderbilt University) and Dr. Andrea Daga (University of Padova, Italy), examines how spastin is involved in neuronal communication. Because the spastin gene is similar in the Drosophila (fruit fly) genetic model and in humans, the protein is predicted to perform the same function in both organisms. Therefore,
'"/>

Contact: Heidi Hardman
hhardman@cell.com
617-397-2879
Cell Press
12-Jul-2004


Page: 1 2

Related biology news :

1. Researchers determine genetic cause of Timothy syndrome
2. Rare childhood genetic syndrome identified
3. New research shows plants can shuffle and paste gene pieces to generate genetic diversity
4. Scientists decipher genetic code of biothreat pathogen
5. Chemical genetics identifies SARS inhibitors
6. 22nd amino acid synthesized and added to genetic code of e. coli bacteria
7. The impact of genetic variations on the treatment of early rheumatoid arthritis
8. Adaptive changes in the genome may provide insight into the genetics of complex disease
9. New genetic hypothesis for the cause of autism
10. Fossils reveal direct link between global warming and genetic diversity in wildlife
11. A genetic disorder yields insight into genes and cognition

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:6/27/2016)... , June 27, 2016 Research and Markets ... America 2016-2020" report to their offering. ... North America to grow at a CAGR of 12.28% ... prepared based on an in-depth market analysis with inputs from industry ... over the coming years. The report also includes a discussion of ...
(Date:6/20/2016)... June 20, 2016 Securus Technologies, a ... solutions for public safety, investigation, corrections and monitoring ... involved, it has secured the final acceptance by ... for Managed Access Systems (MAS) installed. Furthermore, Securus ... to be installed by October, 2016. MAS distinguishes ...
(Date:6/7/2016)... June 7, 2016  Syngrafii Inc. and San ... relationship that includes integrating Syngrafii,s patented LongPen™ eSignature ... This collaboration will result in greater convenience for ... union, while maintaining existing document workflow and compliance ... ...
Breaking Biology News(10 mins):
(Date:12/2/2016)... NY (PRWEB) , ... December 01, 2016 , ... The ... is expanding to three days and will take place on February 1-3, 2017 at ... and Dr James Gulley (NCI), the program provides a unique 360-degree approach, which addresses ...
(Date:12/2/2016)... , ... December 02, 2016 ... ... a consortium of pharmaceutical and biotechnology companies dedicated to collaboratively developing improved ... interested in supplying a vendor-supported, portable online UHPLC, with robust, probe-based sampling. ...
(Date:12/2/2016)... The immunohistochemistry (IHC) market is projected ... of 7.3% during the forecast period of 2016 to 2021 dominated ... accounted for the largest share of immunohistochemistry (IHC) market, by end ... , , ... market spread across 225 pages, profiling 10 companies and supported with ...
(Date:11/30/2016)... , Nov. 30, 2016  GenomOncology today announced the ... President of Medical Affairs.  Dr. Coleman will ... the company,s proprietary knowledge-enabled platform. The GenomOncology software suite empowers ... genetic sequencing data and clinical decision support, from quality control ... , ...
Breaking Biology Technology:
Cached News: