A team of researchers at Massachusetts General Hospital has found that people with amyotrophic lateral sclerosis or ALS who carry a mutation in the C9orf72 gene have high levels of the phosphorylated tau and tau protein in the motor cortex region of the brain. The study was published in the ‘Brain Pathology Journal’.
He also identified new genetic mutations in the tau gene and found that the ratio of different forms of tau protein may be an indicator of disease progression in ALS. “This study focused on tau, a protein essential for stabilizing the structure of nerve cells and which has been implicated in Alzheimer’s disease, and whether it plays a role in the pathogenesis of ALS as it can form aggregates and lead to cellular dysfunction in a number of neurodegeneratives, ”said lead author Ghazaleh Sadri-Vakili, PhD, director of the neuroepigenetics laboratory at the MassGeneral Institute for Neurodegenerative Disease and Sean M. Healey and the AMG Center for SLA at Mass General.
Using post-mortem brain samples from people with ALS, the researchers found that tau and one of its phosphorylated forms are increased in the brains of patients whose cells carry a mutation in the C9orf72 gene that was linked to ALS and dementia 10 years ago. “We have also identified new genetic mutations in the tau gene which is specific to ALS and may have functional consequences which may exacerbate the onset or progression of the disease,” said Sadri-Vakili.
To determine whether the tau protein is a viable biomarker for ALS, the team measured tau and its phosphorylated form in the cerebrospinal fluid of people living with ALS. Researchers have shown that the increase of these particular forms of tau protein in patients’ cerebrospinal fluid correlates with disease progression. Therefore, tau levels – and in particular the ratio of tau to the phosphorylated form of the tau protein – could help clinicians predict the rate of disease progression of patients. “These results are exciting because there is an urgent and unmet need for disease biomarkers in ALS,” noted Sadri-Vakili.
Funding was provided by the Judith and Jean Pape Adams Charitable Foundation, the Byrne Family Endowed Fellowship in ALS Research, the Alzheimer’s Association, the Jack Satter Foundation and the National Institute on Aging. (ANI)
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