In comprehensive analyses, the researchers collected cerebrospinal fluid (CSF), via a small puncture in the spine, as well as serum from 15 C9orf72 patients, 9 sporadic ALS patients and 14 control patients, and conducted a test to measure the levels of around 40 different immune molecules and chemicals. They found an increase in pro-inflammatory molecules in the serum and CSF of both sporadic and C9orf72 ALS patients compared to controls, but the increase was more pronounced in C9orf72 patients.
These findings point to important distinguishing characteristics of this subgroup of ALS patients, which could be detectable in a peripheral test of serum. Serum tests would be less invasive than testing CSF. The results also indicate that any future strategies for developing anti-inflammatory treatments would benefit from distinguishing the C9orf72 subtype from other types of ALS. The researchers are looking to build a bank of patient samples to continue studying key differences between patient subtypes.
“This is a step in better characterizing this sub-population of ALS patients,” says senior author Hristelina Ilieva, MD, PhD, assistant professor and medical director of the Weinberg ALS Center, “and an impetus to continue the search for biomarkers for this disease.”
The work was funded by an American Brain Foundation award. The authors report no conflict of interest.
Article Reference: Gabriel Pinilla, Anupama Kumar, Mary Kay Floaters, Carlos A Pardo, Jeffrey Rothstein, Hristelina Ilieva, “Increased synthesis of pro-inflammatory cytokines in C9ORF72 patients”, DOI: 10.1080/21678421.2021.1912100, Amyotroph Lateral Scler Frontotemporal Degener, 2021