Navigation Links
Defective cell 'battery' plays central role in neurodegenerative disease
Date:1/17/2012

A devastating neurodegenerative disease that first appears in toddlers just as they are beginning to walk has been traced to defects in mitochondria, the 'batteries' or energy-producing power plants of cells. This finding by a team of researchers, led by investigators from the Montreal Neurological Institute and Hospital The Neuro- at McGill University, was published in this week's issue of the Proceedings of the National Academy of Sciences of the USA (PNAS). The research, which was highlighted as "Novel & Newsworthy" by the American Society for Cell Biology (ASCB), significantly increases understanding of the disease and reveals an important common link with other neurodegenerative diseases, providing renewed hope and potential new therapeutic strategies for those affected around the world.

The disorder, Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS), primarily affects the cerebellum, a centre for movement coordination in the brain. ARSACS was first identified in the late 1970s in a large group of patients from the Charlevoix and Saguenay regions of Quebec. The incidence of ARSACS in this 'founder' population is 1 in 1,500-2,000 births, with a high carrier rate of 1 in 23. ARSACS strikes at an early age. Symptoms, which worsen over time, include poor motor coordination, spastic stiffness, muscle wasting, uncoordinated eye movements and slurred speech. Most patients with the disease are wheelchair-bound by their early 40s and have a reduced life expectancy. ARSACS is not unique to French-Canada as scientists have now found over 100 separate mutations in people worldwide including Japan, Turkey and across Western Europe.

"This finding is the first important advancement in the 10 years since the identification of the mutated gene because it gives an indication of the underlying cellular mechanism of the disease," says Dr. Bernard Brais, neurologist at The Neuro, "and is a vital first step towards developing therapeutic strategies for ARSACS." In 2000, scientists identified the gene associated with the disease, called SACS, which produces a massive 4,579 amino acid protein called sacsin, but until now the role or the function of the sacsin protein has been unknown. The multi-institutional collaborative research led by Dr. Brais and Dr. Peter McPherson at The Neuro as well as Dr. Paul Chapple at Queen Mary, University of London indicates that that the sacsin protein has a mitochondrial function, and that mutations causing ARSACS are linked to a dysfunction of mitochondria in neurons.

"By studying neurons in culture as well as in knockout mice (which do not produce sacsin), the team found that loss of the sacsin protein results in abnormally shaped and poorly functioning mitochondria," says Dr. Peter McPherson, researcher at The Neuro. This disruption led to defective changes in the neurons and eventual death of the neurons. In the knockout mice, these disruptions led to neuron death specifically in the cerebellum, suggesting that this is the basis for the neurodegenerative impairments suffered by ARSACS patients.

"Mitochondrial dysfunction has also been identified in major neurodegenerative diseases such as Parkinson, Alzheimer, and Huntington diseases," says Dr. McPherson. "This common link means that research being done on a large-scale on these other diseases may prove critically informative to rarer neurological diseases such as ARSACS, and the inverse may be true, our findings may be fundamental to the study and treatment of other neurodegenerative diseases."


'/>"/>
Contact: Anita Kar
anita.kar@mcgill.ca
514-398-3376
McGill University
Source:Eurekalert

Related biology news :

1. Sight fails when defective eye cells cripple renewal
2. Defective cell surface glue is key to tumor invasion
3. Defective protein is a double hit for ataxia
4. Research project yields better understanding of the defective protein that causes cystic fibrosis
5. DigitalPersona Goes Mobile with New U.are.U 5100 Fingerprint Sensors for Battery-Powered Mobile ID Devices
6. Battery research: Bionics reduces filling time
7. Lithium-sulfur battery research receives $5 million from DOE
8. Livermore researchers develop battery-less chemical detector
9. BASF and Karlsruhe Institute of Technology develop tomorrows battery materials
10. WSU researchers use super-high pressures to create super battery
11. Synthetic cells shed biological insights while delivering battery power
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:5/16/2016)... --  EyeLock LLC , a market leader of iris-based ... IoT Center of Excellence in Austin, Texas ... embedded iris biometric applications. EyeLock,s iris authentication ... with unmatched biometric accuracy, making it the most proven ... platform uses video technology to deliver a fast and ...
(Date:4/28/2016)... , April 28, 2016 Infosys ... (NYSE: INFY ), and Samsung SDS, a global ... that will provide end customers with a more secure, fast ...      (Logo: http://photos.prnewswire.com/prnh/20130122/589162 ) , ... but it also plays a fundamental part in enabling and ...
(Date:4/19/2016)... UAE, April 20, 2016 The ... as a compact web-based "all-in-one" system solution for all ... fingerprint reader or the door interface with integration authorization ... access control systems. The minimal dimensions of the access ... into the building installations offer considerable freedom of design ...
Breaking Biology News(10 mins):
(Date:6/27/2016)... 2016  Liquid Biotech USA ... a Sponsored Research Agreement with The University of ... from cancer patients.  The funding will be used ... with clinical outcomes in cancer patients undergoing a ... be employed to support the design of a ...
(Date:6/24/2016)... (PRWEB) , ... June 24, 2016 , ... While the ... such as the Cary 5000 and the 6000i models are higher end machines that ... the height of the spectrophotometer’s light beam from the bottom of the cuvette holder. ...
(Date:6/23/2016)... , June 23, 2016   Boston Biomedical ... novel compounds designed to target cancer stemness pathways, ... been granted Orphan Drug Designation from the U.S. ... of gastric cancer, including gastroesophageal junction (GEJ) cancer. ... designed to inhibit cancer stemness pathways by targeting ...
(Date:6/23/2016)... , ... June 23, 2016 , ... ... YM (Yeast and Mold) microbial test has received AOAC Research Institute approval 061601. ... microbial tests introduced last year,” stated Bob Salter, Vice President of Regulatory and ...
Breaking Biology Technology: