This is the first study to tie ALS, also known as Lou Gehrig’s disease, to genetic variants associated with other degenerative brain disorders, the researchers noted. For the study, researchers analyzed the ge
Although many genes have been identified that are mutated in ALS with many more implicated in the disease, the genetic cause for a large proportion of ALS risk remains to be discovered. The underlying biological mechanisms that converge on ALS are only partially understood but it is likely that...
It is also known asLou Gehrig's disease, for the legendary New York Yankees player who was stricken with it in the late 1930s. "ALS may be considered a rare disease, but it's actually more common than people think, affecting 1 in 300 Americans. It can strike anyone at anytime and i...
ALS is a rare disease that is estimated to affect about 30,000 people in the United States. One of the challenges in studying the disease is that while genetic variants are believed to account for about 50 percent of ALS risk (with environmental factors making up the rest), most of the ...
For this, we used cell survival and comet assays together with DNA-damage biomarker detection, while inducing neurodegenerative-disease-relevant cell stress by topotecan, which is a topoisomerase 1 inhibitor (TOP1i) that causes single- and double-strand DNA breaks42. Both C9 ALS/FTD lines were ...
Molecular determinants and genetic modifiers of aggregation and toxicity for the ALS disease protein FUS/TLS. PLoS Biol. 9, e1000614 (2011). CAS PubMed PubMed Central Google Scholar Elden, A.C. et al. Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for...
There are two forms of the disorder: when it affects more than one person in the same family, the disease is called familial ALS. If no such family history exists, the patient has sporadic ALS. Genetic, environmental, and lifestyle factors all are believed to play a role in causing ALS....
However, no animal model fully replicates the spectrum of phenotypes in the human disease and it is difficult to assess how a therapeutic effect in disease models can predict efficacy in humans. Importantly, the genetic and phenotypic heterogeneity of ALS leads to a variety of responses to ...
A study found that genetic mutations associated with amyotrophic lateral sclerosis (ALS) lead to problems with the function and transport of mitochondria, cellular structures needed for energy production, early in the disease course, before abnormal protein clumps are formed. “We show that the nerve...
The discovery of the new gene associated with ALS will not only allow for better diagnosis and genetic counseling for affected families but also opens up new avenues of research into the functioning of this specific protein and its relationship to the disease. ...