Scientists ID 'Jekyll-Hyde' Protein in Lou Gehrig's Disease Jul 29, 2008
About 15 years ago, scientists found that mutations in the gene that makes the protein superoxide dismutase caused familial ALS, but just how these mutations cause ALS has remained a mystery. In this new study, researchers found that fALS is caused by two properties of superoxide dismutase that create toxic levels of the protein in motor neurons. (Health-Finder)
Genetics of ALS progression Jun 1, 2008
About 20% of these familial ALS cases are the result of an inherited genetic mutation on chromosome 21, in the gene encoding for the superoxide dismutase 1 (SOD1) enzyme ... Although not all familial ALS cases are due to the SOD1 mutation (and not all persons with a mutated form of SOD1 develop ALS), further insight into mechanism of the disease will undoubtedly aid in the development of an effective treatment for ALS.. (EurekAlert!)
Researcher with ALS finds solace in expertise Mar 23, 2008
"The best-adjusted patient I worked with had familial ALS. She was a role model for me.". Although the cause of ALS is as mysterious today as it was the 1800s, when the disease was first identified, about 5 to 10 percent of cases are inherited. (San Francisco Chronicle)
Story ideas from the Journal of Biological Chemistry Mar 22, 2008
While the aggregation of mutated SOD1, a protein that normally protects cells from free radical damage, is a tell-tale sign of familial ALS, the exact composition of these aggregates has been unclear. Identifying the other proteins present and if they are modified in some way could help answer how they form and why they are so toxic. (EurekAlert!)
Scientists identify new gene tied to ALS Mar 1, 2008
While screening 154 people with familial ALS, Shaw and his colleagues found four individuals in one family who shared the same mutation: a single changed base on chromosome 1. The base was located in the TDPB gene, which encodes a protein called TDP-43 whose function isn't clear. (Xinhua)
New Gene for Lou Gehrig's Disease Identified Mar 1, 2008
Shaw studied the TDP-43 gene in 154 families with familial ALS. They discovered one family with a mutation in the gene, which was present in all affected family members, and absent in unaffected ones ... "I think it's a very, very exciting finding," Lee said, especially in light of the recent publication in the Annals of Neurology of another case of familial ALS with a mutation in TDP-43. (MEDLINEplus)
Unexpected Protein Interaction Suggests New Lou Gehrig's Disease Drug Target Jan 26, 2008
The unexpected interaction between a protein that is mutated in familial ALS and the cell machinery that produces ROS, which are implicated in ALS progression, prompted the scientists to investigate further ... With the thermostat broken, mutant SOD-1 keeps the ROS-producing furnace burning in the cell," Engelhardt said. The results suggest that the dysfunctional interaction between mutant SOD1 and Rac1 is responsible, at least in part, for the over-production of ROS in familial ALS and the... (Science Daily)
Mutation in One Gene Tied to Lou Gehrig's Disease Dec 19, 2007
Familial ALS, which accounts for 10 percent of all cases of the disease, has been linked with mutations in a number of other genes. Researchers have had less luck finding a gene associated with non-familial, sporadic ALS, which accounts for 90 percent of ALS cases. (MEDLINEplus)
ALS gene mutation discovered Dec 17, 2007
Familial ALS, which accounts for 10 per cent of all cases of the disease, has been linked with mutations in a number of other genes. Researchers have had less luck finding a gene associated with non-familial, sporadic ALS, which accounts for 90 per cent of ALS cases. (Globe and Mail)
Amorfix Life Sciences develops two vaccines that extend life in Amyotrophic Lateral Sclerosis (ALS) animal model Oct 9, 2007
Amorfix's targeted vaccine approach is based on the premise that the misfolding and aggregation of SOD1, which is known to occur in familial ALS patients, is a principal agent in the death of motor neurons in all types of ALS disease. Amorfix believes that by administering a vaccine designed to elicit the production of antibodies that target only misfolded SOD1, the immune system could be educated to specifically recognize misfolded SOD1 as foreign and neutralize it, while sparing the normally... (Canada Newswire)
Gene Variant Linked to Lou Gehrig's Disease Aug 2, 2007
"We know a fair amount about the genetic underpinning of familial ALS," Stephan said. The remaining 90 percent have what's known as the sporadic form of the disease, which is believed to be caused by the interaction of different environmental factors and, as yet, mostly unidentified genes. (Health-Finder)
Scientists get on base against ALS Aug 1, 2007
While research has linked a gene to familial ALS, the same hasn t been true of sporadic ALS until now ... A team led by Svendsen published the other piece of research, which was about a therapy for familial ALS. Svendsen s group genetically altered human stem cells to produced a nerve growth chemical called GDNF, then implanted those stem cells in the spinal cords of rats modified to develop ALS. What the stem cells did is protect nerve cells from damage. (Racine Journal Times, WI)
Gains in ALS research Apr 18, 2007
Indeed, the stem cells were coaxed into making motor neurons from the mutant form of the SOD1 gene, the most common familial ALS gene. The pathology in the petri dish was similar to that seen in a mouse with the disease. (Newsday -- Health)
