Study finds abnormal production of C9RANT in patients with ALS, frontotemporal dementia

Published on February 13, 2013 at 3:23 AM · No Comments

Researchers at Mayo Clinic have discovered an abnormal protein that accumulates in the brains of many patients affected with two common neurodegenerative disorders — amyotrophic lateral sclerosis, also known as ALS or Lou Gehrig's disease, and frontotemporal dementia. They say their findings have uncovered a potentially new therapeutic target and biomarker that would allow clinicians to confirm diagnosis of the diseases. The study is published online today in the journal Neuron.

The Mayo research team, led by scientists at Mayo Clinic's campus in Florida, discovered the abnormal protein pathology that they call C9RANT. An error in the highly regulated cellular process through which proteins are generated causes the abnormal production of C9RANT. The team developed an antibody that can detect the specific, insoluble protein that clumps together and is present in patients with mutations in the C9ORF72 gene, which was previously identified by Mayo Clinic researchers as the most common genetic cause of ALS and frontotemporal dementia.

"This new finding sheds light on how the mutation causes these disorders, and it provides us with a marker that helps us track disease progression in patients with this disorder and potentially combat the disease," says senior author Leonard Petrucelli, Ph.D., a molecular neuroscientist and director of the Department of Neuroscience at Mayo Clinic in Florida.

If it is shown that, as suspected, these protein clumps are the cause of neuronal death and toxicity in these diseases, it may be possible to design therapies to break the clumps apart or to prevent the protein from accumulating in the first place, Dr. Petrucelli says.

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