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:3/30/2017)... , March 30, 2017 Trends, opportunities and ... and behavioral), by technology (fingerprint, AFIS, iris recognition, facial ... and others), by end use industry (government and law ... financial and banking, and others), and by region ( ... , Asia Pacific , and the ...
(Date:3/24/2017)... -- The Controller General of Immigration from Maldives Mr. ... have received the prestigious international IAIR Award for the most innovative high ... ... Maldives Immigration Controller ... (small picture on the right) have received the IAIR award for the ...
(Date:3/22/2017)... Lithuania , March 21, 2017   ... and object recognition technologies, today announced the release ... kit (SDK), which provides improved facial recognition using ... cameras on a single computer. The new version ... to improve accuracy, and it utilizes a Graphing ...
Breaking Biology News(10 mins):
(Date:6/22/2017)... ... June 21, 2017 , ... Building on the success of the ... informative on the very latest developments in radical life extension. RAADfest combines cutting edge ... and the empowerment of personal development, making it the largest most comprehensive and inclusive ...
(Date:6/22/2017)... Yorba Linda, Ca (PRWEB) , ... June 22, 2017 , ... ... labs worldwide. It took 20 years until the first data on cross-contamination of human ... cell lines has been an increasing issue in cell culture labs and is associated ...
(Date:6/20/2017)... Fairfield, Iowa (PRWEB) , ... June 20, 2017 ... ... a chance to immediately determine the adulterants which pose the most likely threat ... 25 - 28 of this year. , IFT's annual food expo attracts ...
(Date:6/19/2017)... ... June 19, 2017 , ... As Vice ... EDETEK’s products including training, implementation, support, and client process and SOP development. , ... has previously held leadership roles for service providers and top-tier pharmaceuticals, and as ...
Breaking Biology Technology:
Cached News: