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 homo
'/>"/>

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

Page: 1 2

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:7/9/2014)... selection for traits that are attractive to the opposite ... to mate, the tail of male peacocks being an ... Riverside have now found that sexual selection and "placentation" ... Describing the life histories of more than 150 species ... that species with placentas tend to have males that ...
(Date:7/9/2014)... nature,s ability to split the water molecule during ... artificial photosynthesis for clean, green and renewable energy ... scientists led by researchers with the Lawrence Berkeley ... Accelerator Laboratory. , Working at SLAC,s Linac ... x-ray laser, the researchers were able to take ...
(Date:7/9/2014)... traumatic injuries have identified an immune marker that ... hospital-acquired infection. The study, led by clinician-scientists at ... in the journal Shock , is part ... the clinical implementation of quick-turnaround immune function tests ... damage following critical illness or injury in pediatric ...
Breaking Biology News(10 mins):Biologists link sexual selection and placenta formation 2Biologists link sexual selection and placenta formation 3Biologists link sexual selection and placenta formation 4Postcards from the photosynthetic edge 2Postcards from the photosynthetic edge 3Immune function predicts infection risk among child trauma patients 2Immune function predicts infection risk among child trauma patients 3
... of North Carolina at Chapel Hill have identified a new ... practice. In an article published in the ... researchers describe how exploiting the molecular mechanism behind acupuncture resulted ... new therapeutic approach PAPupuncture. Principal investigator Mark ...
... defects of the brain and spine in America,s babies, particularly those of Hispanic ... with the B vitamin folic acid, according to a new petition filed with ... , Gruma Corporation Spina ... March of Dimes Foundation , ...
... surgery appears to be associated with an increased risk of ... a new study at the Sahlgrenska Academy, at the University ... is the most important factor when it comes to adhesive ... operations and other health conditions into account. This is ...
Cached Biology News:Pain relief with PAP injections may last 100 times longer than a traditional acupuncture treatment 2Coalition petitions FDA to fortify corn masa flour with folic acid 2Coalition petitions FDA to fortify corn masa flour with folic acid 3
(Date:1/14/2014)... MD (PRWEB) January 14, 2014 ... to developing innovative information technology solutions for patients, ... health care stakeholders, announced today the signing of ... US Food and Drug Administration (FDA). This ...
(Date:1/14/2014)... Washington, USA, and Cardiff, UK (PRWEB) January 13, 2014 ... photonics technology development leader with more than 20 years ... society for optics and photonics . Hainsey will serve ... are delighted to have Dr. Hainsey join SPIE as ...
(Date:1/14/2014)... 14, 2014 During the 1600’s through the ... “The Doctor’s Plague.” In this time period, doctors did not ... at times, to the death of vulnerable patients. In the ... that they may be unwittingly transmitting herpes viruses to their ...
(Date:1/14/2014)... 14, 2014 BioMedomics, Inc. , a ... diagnostic platforms and novel disease specific POC tests, announced today ... netting a total of $690,000. The investment is from private ... company. This group of private investors has significant successful experience ...
Breaking Biology Technology:Global Record Systems Announces Research Collaboration Agreement with FDA to Create a Novel “Big Data” Paradigm for Collection of Patient Safety and Outcomes Information 2Photonics R&D Leader Bob Hainsey Joins SPIE Technical Staff 2Study: Fatigued Medical Interns Infect Their Patients with Herpes Viruses; The CBCD Sees a Parallel with “The Doctor’s Plague” 2Study: Fatigued Medical Interns Infect Their Patients with Herpes Viruses; The CBCD Sees a Parallel with “The Doctor’s Plague” 3BioMedomics, Inc. Closes $690K Round of Financing 2
... SINGAPORE, Sept. 14 China Agro-Technology Holdings (OTC Bulletin Board: ... is focused on spotlighting the company,s focus on acquiring high-growth ... located at www.chinaagrotech.com. , , About ... headquartered in Singapore, is focused on becoming a leader in ...
... , , Intelligent Design Author Will Also Speak ... , Sept. 14 The debate over Darwin rages on in ... of Natural History September 29th with the Southwestern debut of ... in the fossil record. To view a trailer and clips from the ...
... , SUNNYVALE, Calif., Sept. 14 ... focused on developing and commercializing innovative small molecule drugs for ... that it will report financial results for the fourth quarter ... market closes on Thursday September 17, 2009 at 1:30 p.m. ...
Cached Biology Technology:Intelligent Design Film to Premiere at Sam Noble Oklahoma Museum of Natural History Sept. 29 2Pharmacyclics Announces Date of Fourth Quarter and Fiscal Year End 2009 Conference Call 2
... Cycler unit is an inexpensive personal or mini ... PCR process. Lightweight, with a small footprint, it ... including the researcher's desk. , The Gene Cycler ... do not have access to a large laboratory ...
... Select Immunophosphatase Secondary Detection System is intended ... Prediluted Primary Antibody reagents, which contain rat ... of antigens by light microscopy in paraffin-embedded ... System may also be used with other ...
... RNA stain is used to stain and ... agarose gels and does not interfere with ... nm transilluminator, the stain emits a red-orange ... film or with a CCD camera-based gel ...
... efficient interfacing with mass spectrometry. Improved ... demands for benefits like these have ... routine applications. Standard HPLC systems, however, ... to operate with smaller bore columns ...
Biology Products: