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 genetics of 791 people with ALS and 757 healthy people, looking for the presence of ...
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...
"Our results highlight that genetic factors play a significant role in the disease, which is important in an era of genetic-focused treatments," said Gibson. "It is possible that a larger percentage of sporadic ALS cases have a genetic component. It will take more research to discover other ...
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 ...
Researchers from Northwestern University Feinberg School of Medicine have discovered a link between sporadic and familial forms of amyotrophic lateral sclerosis (ALS), a neurodegenerative disease also known as Lou Gehrig's disease.
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 ...
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 ...
Genetic tests for ALS A genetic test for ALS is done using a blood or saliva sample. Because the genetics of ALS are complex, and new disease-causing mutations are continually being discovered, it is difficult to clearly diagnose ALS with a genetic test. There are different kinds of genetic...
COPD:Chronicobstructive pulmonary disease (COPD) is a lung disease that affects the airflow out of your lungs. It’s caused by smoking or exposure to environmental pollutants and can lead to emphysema. Alpha-1-antitrypsin deficiency (AATD): AATD is a genetic condition that can increase the ris...