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:1/22/2015)... YORK and POINT ROBERTS, Washington ... news source covering leading sectors including technology and tech stocks, ... Privacy marketplace featuring master pickpocket and security consultant Apollo ... is stolen and talks about the Wocket™ biometric smart wallet, ...
(Date:1/22/2015)... N.C. , Jan. 22, 2015 Infinisource has launched ... of the G2 model. The G2 sets a higher standard ... iSolved human capital management solution. With plug-and-play installation, touch screen ... time clock provides a robust time collection solution for the ...
(Date:12/19/2014)... 18, 2014 Research and Markets ( http://www.researchandmarkets.com/research/8kmfcn/iphone_5s ... 5S Fingerprint Sensor - Apple/AuthenTec TMDR92 & Sapphire - ... http://photos.prnewswire.com/prnh/20130307/600769 Following the ... fingerprint reading feature with the iPhone 5S. It is ...
Breaking Biology News(10 mins):Apollo Robbins Talks about the Illusion of Personal Safety and How Easily Your Wallet is Stolen; If a Wocket Wallet is Stolen the Thief Can't do Anything With it! 2Apollo Robbins Talks about the Illusion of Personal Safety and How Easily Your Wallet is Stolen; If a Wocket Wallet is Stolen the Thief Can't do Anything With it! 3Infinisource's NXG series sets new time clock standard 2iPhone 5S Fingerprint Sensor - Apple/AuthenTec TMDR92 & Sapphire - Technology Report 2
(Date:1/22/2015)... January 22, 2015 Crystal Diagnostics (CDx) Xpress ... it has received AOAC-PTM Certifications for the six non-O157 Shiga ... O145; collectively referred to as STEC or the “Big-6”) as ... forming unit (cfu) per 325 g of raw ground beef ...
(Date:1/22/2015)... (PRWEB) January 22, 2015 Selexis SA, ... mammalian Research Cell Banks (RCBs) used for drug discovery ... Cell Banks will include Next-Generation Sequencing (NGS) ... architecture de-risks biologic manufacturing by ensuring the integrity of ...
(Date:1/22/2015)... Jan. 22, 2015   GenoSpace , a precision medicine software ... enable the broad use of genomic, imaging and other biomedical ... of Michelle Munson , CEO of Aspera, an IBM ... Logo - http://photos.prnewswire.com/prnh/20150122/170713 "We are ...
(Date:12/24/2014)... 2014  Vermillion, Inc. (Nasdaq:   VRML), a bio-analytical ... that the Company closed its previously announced private ... Jack W. Schuler , Birchview Fund LLC and ... before offering expenses.  The proceeds will be used ...
Breaking Biology Technology:Crystal Diagnostics Awarded AOAC-PTM Accreditation for the Rapid Detection of “Big 6” E.coli Food Pathogens 2Selexis Generated Research Cell Banks Now Fully Sequenced Using Next-Generation Sequencing 2GenoSpace Expands Board with Appointment of Michelle Munson 2Vermillion Announces Closing of Equity Financing 2Vermillion Announces Closing of Equity Financing 3
Cached News: