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New abnormal protein may help diagnose and treat ALS and frontotemporal dementia


New abnormal protein may help diagnose and treat ALS and frontotemporal dementia

According to a study published in the journal Neuron, a new protein that may help diagnose neurodegenerative diseases like amyotrofic lateral sclerosis (ALS), or Lou Gehrig’s disease, or frontotemporal dementia (FTD), has been identified. It seems that the new protein found, that could serve as a marker for these diseases, is formed as a result of genetic abnormalities. Senior author Dr. Leonard Petrucelli, Chair of Neuroscience at Mayo Clinic in Florida, said that by identifying this protein that accumulates abnormally in the brains of patients it was discovered not only a biomarker but also a potential treatment for this debilitating diseases. Dr. Petrucelli and his team discovered the protein while studying the brain tissue of patients with ALS and frontotemporal dementia. C9RANT, the new protein identified, occurs due to repetition of sequences of nucleotides in non-coding region of the gene C9ORF72.


It should be noted that this protein was identified only after the researchers created an antibody specific for C9RANT. It seems that patients who carry the C9ORF72 gene mutation also have the  protein C9ORF72 in cerebrospinal fluid and this is may help not only to identify patients with ALS and frontotemporal dementia but also for tracking high risk patients. In other words C9RANT is not only an indicator of disease but also a prognostic factor. “Simply put, an error in the highly regulated cellular process through which proteins are generated causes the abnormal production of C9RANT,” explains Dr. Petrucelli.

Amyotrophic lateral sclerosis, or Lou Gehrig’s disease, is a neuraodegenerative disorder that affects the central and peripheral motor neurons. Clinically, the disease is manifested by asymmetric motor deficit ( distal or proximal), dysarthria (speech disorder), fasciculations, etc.. What is of note is that the survival time since diagnosis is approximately 3-5 years. In addition, it is worth to mention that there is no cure for this disease although researchers are trying to find a drug to prolong survival.

Frontotemporal dementia is also a degenerative disease that is characterized by progressive loss of memory, confusion, irritability and loss of inhibitions. Frontotemporal dementia is due to atrophy in frontal and temporal lobes  which leads to changes in behavior and personality of the patient. The cause of the disease is not certainly known but the mechanism of this disease seems to be accumulation of abnormal proteins. It is already known that in some forms of dementia, such as Alzheimer’s disease, one of the major events in the pathology of the disease is the accumulation of tau protein, which is toxic and causes cell death.