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06-03-2008, 08:20 AM | #1 | |||
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In Remembrance
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Genetics Behind Lou Gehrig's Disease Progression Uncovered
The genetics behind Amyotrophic lateral sclerosis (ALS) or Lou Gehrig's disease has been identified by University of Tokyo researchers. Lead researchers Dr. Hidenori Ichijo and Dr. Hideki Nishitoh describe ALS as a rapidly progressive, fatal neurological disease involving the degeneration and death of motor neuron cells. In their study paper, the researchers have highlighted how mutations in the superoxide dismutase 1 (SOD1) enzyme lead to motor neuron cell death and the progression of ALS. The researchers say that they have characterized a molecular pathway by which mutated SOD1 contributes to the accumulation of malformed proteins inside the endoplasmic reticulum (ER) compartment of motor neuron cells. They point out that beyond a certain threshold, the ER stress induces cell death. Dr. Ichijo says that the study has revealed that the inactivation of certain key factors in the pathway could mitigate neurodegeneration, and prolong survival in a mouse model of inherited ALS. The researchers admit that all familial ALS cases are not due to the SOD1 mutation, and that all persons with a mutated form of SOD1 do not develop ALS. They, however, insist that further insights into the mechanism of the disease could aid in the development of an effective treatment for the disease. Source-ANI RAS/L http://www.medindia.net/news/Genetic...ed-37520-1.htm
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