Navigation Links
Scientists identify mutation in SIGMAR1 gene linked to juvenile ALS
Date:8/11/2011

Researchers from the Kingdom of Saudi Arabia have identified a mutation on the SIGMAR1 gene associated with the development of juvenile amyotrophic lateral sclerosis (ALS). Study findings published today in Annals of Neurology, a journal of the American Neurological Association and the Child Neurology Society, show the gene variant affects Sigma-1 receptors which are involved in motor neuron function and disease development.

ALS, also referred to as Lou Gehrig's disease, is a progressive neurodegenerative disorder that attacks brain and spinal cord nerve cells (neurons) responsible for controlling voluntary muscle movement. The degeneration of upper and lower motor neurons gradually weakens the muscles they control, leading to paralysis and eventual death from respiratory failure.

Studies report an annual incidence of 1-3 per 100,000 individuals, with 90% of cases not having a family history of the disease (sporadic ALS). In the remaining 10% of cases there is more than one affected family member (familial ALS). Juvenile ALScharacterized by age of onset below 25 yearsis a rare and sporadic disorder, making it difficult to determine incidence rates. One of the more prominent juvenile ALS patients is renowned physicist, Professor Stephen Hawking, who was diagnosed at the age of 21.

Previous research found that mutation of the superoxide dismutase 1 (SOD1) gene accounts for 20% of familial and 5% of sporadic ALS cases; gene mutations of ALS2 and SETX have been reported in juvenile ALS cases. The present study led by Dr. Amr Al-Saif from the King Faisal Specialist Hospital and Research Center in Riyadh, KSA performed genetic testing on four patients from an ALS family who were diagnosed with juvenile ALS to investigate mutations suspected in disease development.

Researchers performed gene mapping on the DNA of study participants and used direct sequencing to detect the genetic variant. The team identified a shared homozygosity region in affected individuals and gene sequencing of SIGMAR1 revealed a mutation affecting the encoded protein, Sigma-1 receptor. Those cells with the mutant protein were less resistant to programmed cell death (apoptosis) induced by stress to the endoplasmic reticulum.

"Prior evidence has established that Sigma-1 receptors have neuroprotective properties and animal models with this gene inactivated have displayed motor deficiency," explains Dr. Al-Saif. "Our findings emphasize the important role of Sigma-1 receptors in motor neuron function and disease. Further exploration is warranted to uncover potential therapeutic targets for ALS. "


'/>"/>

Contact: Dawn Peters
healthnews@wiley.com
781-388-8408
Wiley-Blackwell
Source:Eurekalert

Related biology news :

1. Carnegie Mellon scientists discover how molecular motors go into energy save mode
2. Scientists copy the ways viruses deliver genes
3. Scientists explore the role of aeroecology in bat conservation and ecosystem health
4. Good prion-like proteins boost immune response, UT Southwestern scientists report
5. Many top US scientists wish they had more children
6. UCLA life scientists study of abalone yields new insights into sexual reproduction
7. USDA scientists study effects of rising carbon dioxide on rangelands
8. Scientists identify what makes us feel bad when were sick, how to treat it
9. CSHL scientists reveal mechanism behind oncogene addiction in acute leukemia
10. Scientists take a giant step for people -- with plants!
11. Scientists report dramatic carbon loss from massive Arctic wildfire
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:5/24/2016)... IRVINE, Calif. , May 24, 2016 Ampronix facilitates superior patient care ... LMD3251MT  3D medical LCD display is the latest premium product recently added to ... ... ... Sony 3d Imaging- LCD Medical Display- Ampronix News ...
(Date:5/9/2016)... 9, 2016 Elevay is currently ... expanding freedom for high net worth professionals seeking travel ... globally connected world, there is still no substitute for ... duplicate sealing your deal with a firm handshake. This ... taking advantage of citizenship via investment programs like those ...
(Date:4/26/2016)... BANGALORE, India and LONDON ... Infosys Finacle, part of EdgeVerve Systems, a ... ), and Onegini today announced a partnership to ... banking solutions.      (Logo: http://photos.prnewswire.com/prnh/20151104/283829LOGO ... banks to provide their customers enhanced security to ...
Breaking Biology News(10 mins):
(Date:6/23/2016)... ... June 23, 2016 , ... ... launch of the Supplyframe Design Lab . Located in Pasadena, Calif., the ... future of how hardware projects are designed, built and brought to market. , ...
(Date:6/23/2016)... (PRWEB) , ... June 23, 2016 , ... In a ... Hospital in Denmark detail how a patient who developed lymphedema after being treated for ... The results could change the paradigm for dealing with this debilitating, frequent side effect ...
(Date:6/23/2016)... June 23, 2016  Blueprint Bio, a company dedicated ... the medical community, has closed its Series A funding ... . "We have received a commitment from ... we need to meet our current goals," stated ... the runway to complete validation on the current projects ...
(Date:6/23/2016)... On Wednesday, June 22, 2016, the NASDAQ Composite ... Jones Industrial Average edged 0.27% lower to finish at 17,780.83; ... has initiated coverage on the following equities: Infinity Pharmaceuticals Inc. ... NKTR ), Aralez Pharmaceuticals Inc. (NASDAQ: ARLZ ), ... more about these stocks by accessing their free trade alerts ...
Breaking Biology Technology: