By means of new sequencing method, researchers have discovered a gene that appears to cause the occurrence of amyotrophic lateral sclerosis (ALS).
A team of researchers led by scientists from Johns Hopkins and the National Institutes of Health Using make the discovery, which may lead to novel ways to treat the more common form of this fatal neurodegenerative disease.
AdvertisementResearchers don't know exactly what causes ALS, which destroys the motor neurons that control the movement of all the body's muscles, including those that control breathing.
However, studies into the familial form of the disease, which affects 5 percent to 10 percent of those diagnosed with the disease, could shed some light on why motor neurons die in all types of ALS, said study leader Bryan J. Traynor of theJohns Hopkins University.
"If you look at the spectrum of diseases caused by dysfunctional genes, our knowledge of almost all of them has grown out of the familial form of those diseases," said Traynor.
By finding the genes associated with those diseases, researchers can insert the causative genes in animals, creating models that can help them decipher what takes place to cause pathologies and develop ways to stop them, he said.
In the new study, Traynor and colleagues used a new technique known as exome sequencing to search for more.
The team used exome sequencing on two ALS patients and 200 people without the disease. Their search turned up a gene called VCP, short for valosin-containing protein.
When the researchers looked for other instances in which this gene was mutated in 210 additional ALS patients, they found four different mutations that affect VCP in five individuals.
None of these mutations were found in the genomes of hundreds of healthy controls, suggesting that VCP is indeed the cause for some of the ALS cases.
The findings were published in the journal Neuron.
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