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Scientists identify mutation in SIGMAR1 gene linked to juvenile ALS

Scientists have identified a mutation in the SIGMAR1 gene associated with juvenile amyotrophic lateral sclerosis (ALS), affecting Sigma-1 receptors involved in motor neuron function and disease development. The study suggests that further exploration of this receptor may uncover potential therapeutic targets for ALS.

SourceWiley·JournalAnnals of Neurology·DateAug 12, 2011

JCI online early table of contents: Jan. 4, 2011

Researchers discovered a defect in hair follicle stem cells conversion to progenitor cells in AGA. Aspirin-derived resolvins reduced pro-inflammatory molecules and cells in a mouse model of inflammation. A new approach to vaccine design against systemic fungal infections requires inducing Th17 cells.

SourceJCI Journals·JournalJournal of Clinical Investigation·DateJan 4, 2011

Preserving nerve cells in motor neuron disease

A team of researchers identified a way to preserve nerve cells in motor neuron disease by preventing symptom onset, weight loss, and paralysis. This discovery provides a new avenue for the development of therapeutics for ALS and other motor neuron diseases.

SourceJCI Journals·JournalJournal of Clinical Investigation·DateSep 20, 2010

JCI online early table of contents: Sept. 20, 2010

Researchers identified ways to preserve motor neuron cells in ALS and enhance CD8+ T cell therapy for leukemia. Expanding immune suppressors via TNFRSF25 could prevent allergic lung inflammation in asthma. These findings may pave the way for new therapeutic approaches for these diseases.

SourceJCI Journals·JournalJournal of Clinical Investigation·DateSep 20, 2010

Pecans provide neurological protection

A new animal study published in Current Topics in Nutraceutical Research suggests that eating pecans daily may help protect the nervous system and delay motor neuron degeneration. The study found that vitamin E in pecans provides significant antioxidant benefits, which can fight diseases like Alzheimer's and Parkinson's.

SourceKellen Communications·JournalCurrent Topics in Nutraceutical Research·DateJun 9, 2010

Defective protein is a double hit for ataxia

A defective protein in spinocerebellar ataxia type 5 (SCA5) damages nerve cells by cutting the number of synaptic terminals and disrupting intracellular transportation. The study suggests that the complex containing beta-III-spectrin, dynactin, and dynein might also snag microtubules to prevent degeneration.

SourceRockefeller University Press·JournalJournal of Cell Biology·DateApr 5, 2010

The protein APC slows Lou Gehrig's disease in mice

Researchers found that administering APC and its analogs slowed disease progression and extended survival in mutant SOD1-expressing mice. These compounds worked by decreasing SOD1 expression in brain cells, indicating a potential neuroprotective effect of APC in mouse models of inherited ALS.

SourceJCI Journals·JournalJournal of Clinical Investigation·DateOct 19, 2009

JCI table of contents: Oct. 19, 2009

Researchers found that administration of APC protein slowed disease progression and extended survival in mice with inherited ALS. The study suggests activating APC might benefit patients with inherited and possibly sporadic ALS, but warns of potential risks.

SourceJCI Journals·JournalJournal of Clinical Investigation·DateOct 19, 2009

UMMS researchers isolate first 'neuroprotective' gene in patients with amyotrophic lateral sclerosis

A genetic variant in the KIFAP3 gene has been linked to a significant increase in survival time for patients with amyotrophic lateral sclerosis (ALS). The variant, found in over 1,800 individuals with ALS and nearly 2,200 unaffected controls, is associated with improved motor function and increased survival by 40-50 percent.

SourceUMass Chan Medical School·JournalProceedings of the National Academy of Sciences·DateMay 11, 2009

Researchers genetically link Lou Gehrig's disease in humans to dog disease

A recent study has genetically linked Lou Gehrig's disease in humans to a similar disease in dogs called degenerative myelopathy. The researchers discovered that dogs with this disease have the same genetic mutation as humans with ALS, paving the way for using them as animal models to help identify therapeutic interventions.

SourceUniversity of Missouri-Columbia·JournalProceedings of the National Academy of Sciences·DateJan 21, 2009