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New model of ALS is based on human cells from autopsied tissue
Date:8/11/2011

ectancy by just a few months.

About 90 percent of ALS cases are sporadic and 10 percent run in families. Mutations in the superoxide dismutase1 (SOD1) gene are found in about one-fifth of people with familial ALS, and for decades, experts have theorized that the gene holds clues to sporadic ALS. Laboratory mice carrying human SOD1 mutations develop signs of ALS as they age, and have been widely used to investigate the causes and potential treatments for the disease.

Recent NIH-funded studies showed that astrocytes derived from these SOD1 mice are toxic to motor neurons. Astrocytes lesser known than neurons and usually described as playing a supportive role became prime suspects for killing neurons in ALS.

At the same time, however, researchers have questioned whether SOD1 mice are useful and whether SOD1 itself is relevant for understanding sporadic ALS. Although dozens of potential therapies have shown promise in the mice, so far only riluzole has proven to help patients in clinical trials. Those results raised concerns that SOD1 might not be a factor in the majority of ALS cases after all.

"The Ohio team has developed a useful model for addressing these issues," said Amelie Gubitz, Ph.D., a program director at NINDS. "Their analysis of the cells adds to mounting evidence that astrocytes and particularly SOD1 function in those cells contribute to both sporadic and familial ALS."

The investigators obtained post-mortem spinal tissue from ALS patients through the National Disease Research Interchange (NDRI). This is a nonprofit organization supported by NIH, voluntary health organizations and corporate and individual sponsors that enables people to donate their tissues for use in research after death, and then delivers specific tissues to research labs. NDRI performed the autopsies in the ALS patients' local communities and used couriers to fly the tissue samples to Columbus. By working through weekends and ofte
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Contact: Daniel Stimson
stimsond@ninds.nih.gov
301-496-5751
NIH/National Institute of Neurological Disorders and Stroke
Source:Eurekalert

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