Researchers discover a new biomarker candidate to diagnose ALS cases in early stages

Amyotrophic Lateral Sclerosis (ALS) is a degenerative disease which affects the neurons that control the muscular tissue. As the disease progresses, these motoneurons stop working and end up dying, which causes a progressive muscular paralysis with a life-threatening prognosis. Unlike the familial ALS (fALS), which represents approximately a 10% of the ALS cases, the sporadic ALS (sALS), shows no early signs of the pathology and its diagnostic is more difficult.

A new study published in the journal International Journal of Molecular Sciences reveals that the CSCL12 protein is overexpressed in patients with sALS from early stages. The high concentration of CSCL12 is detected in cerebrospinal fluid samples obtained by lumbar puncture. “Our results link CXCL12 to the neuroinflammatory response but not to the sALS neuronal damage”, notes Pol Andrés Benito, first author of the study and researcher at the Faculty of Medicine and Health Sciences and the Institute of Neurosciences of the UB (UBNeuro) , the Bellvitge Biomedical Research Institute (IDIBELL), the University Hospital of Bellvitge (HUB) and the Biomedical Research Networking Center on Neurodegenerative Diseases (CIBERNED).

The protein CXCL12 is also overexpressed in patients with multiple sclerosis (MS). This is why it cannot be considered “a specific biomarker for sALS), notes Isidre Ferrer, professor at the Faculty of Medicine and Health Sciences of the UB, and head of research at IDIBELL, HUB, UB and CIBERNED. “However, it is useful, since biomarkers are used within a clinical context. Symptomatology and biochemistry provide complementary information to make a good diagnostic”.

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