Professor Paola Giunti and her team at the London Ataxia Centre have recently published results from their study into the diagnostic potential of several blood proteins to monitor Friedreich’s ataxia (FA). They discovered that high blood levels of three specific proteins may represent new biomarkers to monitor active immune cells and ongoing nerve cell damage in Friedreich’s ataxia.

The team found that levels of glial fibrillary acidic protein (GFAP), a biomarker previously linked to the activity of nervous system immune cells (glial cells) as well as neurofilament-light chain (NfL) and ubiquitin C-terminal hydrolase L1 (UCHL1), proteins associated with nerve cell damage, were elevated in patients with FA. There was, however, no association between these proteins levels and disease symptoms severity

“This study represents the first investigation of plasma markers of neurodegeneration in Friedreich’s ataxia,” the researchers wrote. “[Findings] may serve as the basis of further exploration of these brain-derived proteins as promising biomarkers in Friedreich’s ataxia.”

The findings were reported in the study, “Plasma Markers of Neurodegeneration Are Raised in Friedreich’s Ataxia,” published in the journal Frontiers in Cellular Neuroscience and can be found in full here.

Posted on 27/11/2018