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Scientists identify mutation in SIGMAR1 gene linked to juvenile ALS

Sigma-1 receptor offers potential therapeutic target

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 ALS—characterized by age of onset below 25 years—is 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. "

This study is published in Annals of Neurology. Media wishing to receive a PDF of this article may contact

Full citation: "A Mutation in Sigma-1 Receptor Causes Juvenile Amyotrophic Lateral Sclerosis"; Amr Al-Saif, Futwan Al-Mohanna and Saeed Bohlega. Annals of Neurology; Published Online: August 12, 2011 (DOI:10.1002/ana.22534).

About the Journal

Annals of Neurology, the official journal of the American Neurological Association and the Child Neurology Society, publishes articles of broad interest with potential for high impact in understanding the mechanisms and treatment of diseases of the human nervous system. All areas of clinical and basic neuroscience, including new technologies, cellular and molecular neurobiology, population sciences, and studies of behavior, addiction, and psychiatric diseases are of interest to the journal.

About Wiley-Blackwell

Wiley-Blackwell is the international scientific, technical, medical, and scholarly publishing business of John Wiley & Sons, with strengths in every major academic and professional field and partnerships with many of the world's leading societies. Wiley-Blackwell publishes nearly 1,500 peer-reviewed journals and 1,500+ new books annually in print and online, as well as databases, major reference works and laboratory protocols. For more information, please visit or our new online platform, Wiley Online Library (, one of the world's most extensive multidisciplinary collections of online resources, covering life, health, social and physical sciences, and humanities.

Dawn Peters | EurekAlert!
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