Researchers at the Stanford University School of Medicine have identified genetic defects they suspect are associated with the development of some cases of Lou Gehrig’s disease.
The findings, reported in the journal Nature Neuroscience, suggest mutations in several newly identified genes account for spontaneously occurring cases of the neurodegenerative disease, which is also known as amyotrophic lateral sclerosis, or ALS.
Although past research has linked some genetic mutations to the inherited forms of ALS, the majority of patients have no family history of the disease, and scientists haven’t identified the cause of such sporadic ALS cases.
The Stanford researchers compared the DNA of 47 patients who have the spontaneous form of the disease with that of their unaffected parents. They identified 25 mutations in the genes of the ALS patients that are tied to cellular proteins that govern how DNA is packed into the nucleus of a cell — proteins known to play roles in normal development and some forms of cancer.
Five of the 25 are in genes involved in the regulation of the tightly packed form of DNA called chromatin and one is believed to play a role in the ability of the neurons to form branching structures called dendrites that are essential to nerve signaling.
"The more we know about the genetic causes of the disorder, the greater insight we will have as to possible therapeutic targets," said Aaron Gitler, associate professor of genetics. "Until now, researchers have primarily relied upon large families with many cases of inherited ALS and attempted to pinpoint genetic regions that seem to occur only in patients. But more than 90 percent of ALS cases are sporadic, and many of the genes involved in these cases are unknown."
Although the findings are promising, the researchers noted more research is necessary to conclusively prove how genetic mutations contribute to sporadic cases of ALS. But the findings provide new targets for researchers to explore.
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