mayo-clinicMayo Clinic researchers report that they have pinpointed an abnormal protein that accumulates in the brains of many patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. The discovery, they say, may hold promise as a therapeutic target and biomarker that would allow clinicians to confirm the diagnosis of the disease.

The researchers classify the abnormal protein pathology as C9RANT, notes a recent news release. Researchers also reportedly developed an antibody intended to detect the specific, insoluble protein that clumps together and is present in patients who exhibit mutations in the C9ORF72 gene.

According to Leonard Petrucelli, PhD, senior author, molecular neuroscientist, director of the Department of Neuroscience at the Florida-based Mayo Clinic, the findings, “provide us with a marker that helps us track disease progression in patients with this disorder and potentially combat the disease.”

Petrucelli adds that if the protein clumps do indeed play a key role in neuronal death and toxicity in the diseases, the results suggest that it may be feasible to develop therapies designed to break the clumps apart or prevent the protein from accumulating.

A Mayo Clinic news release notes that the findings stem from results in 2011 that indicated an unusual mutation was found in 22% of familial ALS samples and in nearly 12% of familial frontotemporal dementia.

The current study appears in the journal Neuron.

Source: Mayo Clinic