Abnormal Protein May Help Detect Lou Gehrig’s Disease (ALS), Dementia

Mayo Clinic researchers have found 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 appears online 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 — previously identified by Mayo Clinic researchers as the most common genetic cause of ALS and frontotemporal dementia. For more information, click here to read the full release.