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:
TAG: genetic model for hereditary spastic paraplegia HSP disease

(Date:5/5/2015)... OXFORD, Conn. , May 5, 2015, NXT-ID, ... biometric authentication company focused on the growing mobile commerce market, ... the Company,s Chief Technology Officer, is presenting  at CARTES SECURE ... May 5-7, 2015. The three-day conference ... session David is speaking in is themed Global Fraud: ...
(Date:4/20/2015)... , April 20, 2015 Huntington Memorial Hospital ... to implant a new miniaturized, wireless monitoring sensor to ... the first and only FDA-approved heart failure monitoring device ... when used by physicians to manage heart failure. ... is implanted in the pulmonary artery (PA) during a ...
(Date:4/13/2015)... 13, 2015 According to ... Biometrics Market Forecast & Opportunities, 2020", the global biometrics ... around 14% till 2020. The biometrics market is ... implementation and review of biometric management systems. The ... products with greater efficiency, are resulting in increasing ...
Breaking Biology News(10 mins):NXT-ID, Inc.'s CTO, David Tunnell, Presents at CARTES SECURE CONNEXIONS AMERICA 2015 Today in Washington DC. 2NXT-ID, Inc.'s CTO, David Tunnell, Presents at CARTES SECURE CONNEXIONS AMERICA 2015 Today in Washington DC. 3Huntington Memorial Hospital Becomes First in the San Gabriel Valley to Offer Patients a New Heart Failure Monitoring Solution 2Huntington Memorial Hospital Becomes First in the San Gabriel Valley to Offer Patients a New Heart Failure Monitoring Solution 3Global Biometrics Market to Cross US$ 21 Billion by 2020: TechSci Research 2
(Date:5/28/2015)... 28, 2015 ... announced the addition of Jain PharmaBiotech,s ... Markets and Companies"  to their offering.  ... describes and evaluates animal biotechnology and ... pharmaceuticals as well as improvement in ...
(Date:5/28/2015)... 2015 Research and Markets( http://www.researchandmarkets.com/research/3nl6s2/neuroprotection ) ... report "Neuroprotection - Drugs, Markets and Companies" ... describes the role of neuroprotection in acute disorders ... system as well as in chronic diseases such ... mechanisms of damage to neural tissues are similar ...
(Date:5/28/2015)... Texas (PRWEB) May 28, 2015 ... for use in applications such as animal waste ... and oil reduction in wastewater treatment plants and ... attending the World Pork Expo, June 3-5 in ... this year in a Wall Street Journal article ...
(Date:5/28/2015)... MIAMI BEACH, Fla. , May 28, 2015 /PRNewswire/ ... data supporting the anti-cancer potential of its growth hormone-releasing ... presentation at the 2015 ASCO Annual Meeting. The ... the target for Biscayne,s anti-cancer GHRH blockers, is present ... receptor status. These findings suggest that GHRH antagonists could ...
Breaking Biology Technology:Global Animal Biotechnology Report 2015 - Technologies, Markets and Companies Analysis to 2024 2Global Animal Biotechnology Report 2015 - Technologies, Markets and Companies Analysis to 2024 3Global Neuroprotection Market Report 2015-2024 - Drugs, Markets and Companies 2Global Neuroprotection Market Report 2015-2024 - Drugs, Markets and Companies 3DryLet to Showcase Patented ManureMagicâ„¢ at the 2015 World Pork Expo, June 3-5 in Des Moines, Iowa 2Data Presented At 2015 ASCO Annual Meeting Shows Biscayne Pharmaceuticals' GHRH Antagonist Target Is Expressed Across All Breast Cancer Subtypes 2Data Presented At 2015 ASCO Annual Meeting Shows Biscayne Pharmaceuticals' GHRH Antagonist Target Is Expressed Across All Breast Cancer Subtypes 3
Cached News: