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:10/15/2014)... Lithuania , Oct. 15, 2014   ... technologies, today announced the availability of the ... VeriLook Surveillance 3.0 provides real-time biometric face identification ... high-resolution digital surveillance cameras. The new version not ... and differentiates people from objects while they are ...
(Date:10/14/2014)... Research shows SIRT6—a protein known to inhibit the ... of skin cancers by turning on an enzyme that ... , Previously considered protective, SIRT6 is part of a ... genomic stability and prevent some of the genetic flaws ... can lead to cancer. This study, in the journal,s ...
(Date:10/14/2014)... N.Y. – Scientists have sequenced the house fly genome ... one might expect from an insect that thrives in ... published Oct. 14 in the journal Genome Biology ... biology and of how flies quickly adapt to resist ... Adult house flies (Musca domestica) carry and transmit more ...
Breaking Biology News(10 mins):VeriLook Surveillance 3.0 SDK Identifies Faces and Moving Objects, Differentiates Pedestrians from Other Moving Objects in Video Surveillance Systems 2VeriLook Surveillance 3.0 SDK Identifies Faces and Moving Objects, Differentiates Pedestrians from Other Moving Objects in Video Surveillance Systems 3Two-faced gene: SIRT6 prevents some cancers but promotes sun-induced skin cancer 2House fly genome reveals expanded immune system 2
(Date:10/20/2014)... MENLO PARK, Calif. , Oct. 20, 2014 ... announced today that the Company has signed a ... Institute of Regenerative Medicine (CIRM), effective October 1, ... of Clinical Development payments and the release of ... $14.3 million CIRM grant award for clinical development ...
(Date:10/20/2014)... (PRWEB) October 20, 2014 ... Sidney Kimmel Cancer Center at Thomas Jefferson University ... , Through the Strategic Alliance Partnership program, the ... will collaborate to raise awareness of the Center’s ... and other projects. Clinicians and other health care ...
(Date:10/19/2014)... Mass. , Oct. 19, 2014 NextCODE Health, ... the whole genome in real time, today announced the launch ... NextCODE Exchange , at the American Society of Human ... . To learn more, sign up and apply for free ... its unique features and benefits can be viewed here ...
(Date:10/19/2014)... 2014 The Asian Orthopedic braces and support ... with analysis and forecast of revenue. The Orthopedic braces and ... around $416.5 million by 2018, at a developing CAGR of ... of the Asian Orthopedic braces and support systems market, to ... provides a glimpse of the segmentation of orthopedic braces and ...
Breaking Biology Technology:Asterias Biotherapeutics Announces Notice of Grant Award with CIRM for Phase 1/2a Clinical Trial of AST-OPC1 in Complete Cervical Spinal Cord Injury 2Asterias Biotherapeutics Announces Notice of Grant Award with CIRM for Phase 1/2a Clinical Trial of AST-OPC1 in Complete Cervical Spinal Cord Injury 3Asterias Biotherapeutics Announces Notice of Grant Award with CIRM for Phase 1/2a Clinical Trial of AST-OPC1 in Complete Cervical Spinal Cord Injury 4Sidney Kimmel Cancer Center at Thomas Jefferson University Partners With OncLive 2Sidney Kimmel Cancer Center at Thomas Jefferson University Partners With OncLive 3The NextCODE Exchange: The first global, real-time system for sharing full-resolution genomic data 2The NextCODE Exchange: The first global, real-time system for sharing full-resolution genomic data 3The Asian Orthopedic braces and support systems market is estimated to grow to around $416.5 million by 2018 - New Report by MicroMarket Monitor 2The Asian Orthopedic braces and support systems market is estimated to grow to around $416.5 million by 2018 - New Report by MicroMarket Monitor 3The Asian Orthopedic braces and support systems market is estimated to grow to around $416.5 million by 2018 - New Report by MicroMarket Monitor 4
Cached News: