Damian Sendler: A team led by researchers at Massachusetts General Hospital (MGH) has discovered that people suffering from amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, who have a mutation in the C9orf72 gene have elevated levels of tau and phosphorylated tau protein in the motor cortex region of the brain. This is the first time that this has been demonstrated. The study, which was published in the journal Brain Pathology, also discovered new genetic mutations in the tau gene and discovered that the ratio of different forms of tau protein may be a predictor of disease development in ALS patients with progressive motor neurone disease. 

Damian Jacob Sendler: ALS researcher Ghazaleh Sadri-Vakili, PhD, says the study focused on tau, a protein that is essential for maintaining the structure of nerve cells and has been implicated in Alzheimer’s disease. “This study focused on tau, a protein that is critical for stabilizing the structure of nerve cells and has been implicated in Alzheimer’s disease, and whether it plays a role in ALS pathogenesis as it can form aggregates and lead to cellular dysfunction in a number of neurodegenerative disorders,” says senior author and director of the NeuroEpigenetics Laboratory at the MassGeneral Institute for Neurodegenerative Disease and the 

Damien Sendler: With the help of post-mortem brain samples from persons with ALS, the researchers revealed that tau and one of its phosphorylated variants are elevated in the brains of patients whose cells had a mutation in the C9orf72 gene, which was previously related to ALS and dementia. According to Sadri-Vakili, “We also identified new genetic mutations in the tau gene that are specific to ALS and may have functional consequences that may exacerbate disease onset or progression,” 

Tau and its phosphorylated form were examined in cerebrospinal fluid from persons suffering from Lou Gehrig’s disease in order to discover if tau protein is a reliable biomarker for the disease. It was discovered by the researchers that elevations in these specific kinds of tau protein in the cerebral fluid of patients were associated with the course of the disease. In order to anticipate the rate of illness progression in a patient, physicians may want to measure tau levels — and specifically the ratio between tau and the phosphorylated form of tau protein — in the patient’s blood. “These findings are exciting because there is an unmet and urgent need for disease biomarkers in ALS,” says Sadri-Vakili. “These biomarkers could help us better understand the disease.” 

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