Researchers are making headway in the battle against ALS. They have identified a biomarker that may track disease progression.
In a study published in Neuron, researchers at the Mayo Clinic and The Scripps Research Institute in Florida have developed a treatment strategy that may combat amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Both of these diseases are neurodegenerative diseases. In ALS, patients progressively lose much of their voluntary muscle action which can lead to paralysis. In FTD, neurons in the frontal lobes of the brain are destroyed.
The biomarker involves a mutation in the C9ORF72 gene. The mutation causes a buildup of toxic protein clumps from the abnormal RNA called c9RAN proteins. In this gene, there is a repeat expansion, meaning that the repetitive genetic sequence repeats more than normal.
"Our study shows that toxic RNA produced in people with the c9FTD/ALS mutation is indeed a viable drug target," said Leonard Petrucelli, co-senior investigator of the study.
Researchers are optimistic about the possibility of this biomarker to help treat ALS and FTD - two diseases that have high fatality rates.
"Development of a readily accessible biomarker for the c9FTD/ALS mutation may aid not only in diagnosis of these disorders and allow for tracking disease course in patients, but it could provide a more direct way to evaluate the response to experimental treatments," said Dr. Kevin Boylan, a co-author of the study.
ALS is typically fatal two to five years after diagnosis and FTD has no effective treatment. With this genetic biomarker, there is possibility of finding treatments and therapies for both diseases.
Researchers have also developed a compound that may help combat this genetic mutation.
The compound binds and blocks the RNA's ability to interact with other proteins and prevents the formation of the toxic RNA clumps. The researchers also found that the c9RAN proteins can be measured in the spinal fluid in ALS patients.
Researchers are trying to conduct follow up studies with the drug that may lead to enhanced efficacy of the drug in treating ALS and FTD.
Approximately 5,600 people are diagnosed with ALS every year. Early signs of ALS include muscle weakness in the arms, legs or difficulty with speech, swallowing or breathing.
