ALS could be linked to both immune and central nervous systems, study shows

A major development has been made in the study of amyotrophic lateral sclerosis (ALS). Researchers from Mount Sinai revealed that the condition also known as Lou Gehrig’s disease may be linked to both the immune and central nervous systems.

Mount Sinai researchers reported dysfunctions in immune and central nervous systems within animal models and patients with ALS4, which is a juvenile form of ALS. The dysfunctions were caused by mutations in the gene SETX.

“We learned that mutations in SETX need to be expressed in both the nervous and immune systems to generate motor impairment in mice, and that dysfunction in the adaptive immune system characterizes ALS4 in mice as well as humans,” says Laura Campisi, study co-author and assistant professor of microbiology at the Icahn School of Medicine at Mount Sinai, in a statement.

Campisi says researchers also found high concentration of CD8 T cells in the peripheral blood and spinal cord of ALS4 mice and patients. CD8 T cells are involved in the dismantling of tumors and cells in the body that shelter pathogens. These type of cell populations correlated with ALS4 disease progression, according to Campisi.

“There is a great need to understand if neurodegeneration is caused or aggravated by immune dysfunction,” says Campisi.

In the first-of-its-kind study to address whether the immune system could be linked to ALS, researchers analyzed mice and human samples with mass and spectral cytometry and single-cell sequencing.

“Our discovery of a link between the immune and central nervous systems in ALS4 disease has immediate implications for other types of ALS, other neurodegenerative disorders, and for cancer,” says Dr. Ivan Marazzi, study co-author and associate professor of microbiology at Icahn Mount Sinai.

The study is published in the journal Nature.

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