Familial ALS Study with Identical Twins Delivers Clues

Researchers at the University of California conducted a study on the molecular and genetic characteristics of two identical female twins, one only with amyotrophic lateral sclerosis (ALS), and found that environmental factors may be at the root of genetic modifications that cause the disease.

The discovery may be a key to prevention of the disease and treatments for some ALS patients.

The research paper, titled “Epigenetic changes in T-cell and monocyte signatures and production of neurotoxic cytokines in ALS patients,” was published in the FASEB journal, by the Federation of American Societies for Experimental Biology.

ALS is often divided into two different types, sporadic and familial. Familial ALS, which means the disease in genetically inherited, accounts for 5-10 percent of all cases in the U.S., according to the ALS Association.

In the study case, the ALS twin had some epigenetic changes in a suspected related genome. Epigenetic changes refer to modifications that do not involve the DNA sequence itself but alter the way cells “read” genes. Sometimes naturally occurring, the changes can also be influenced by factors that include age, lifestyle, and disease state.

In the ALS twin, researchers found higher levels of macrophages (immune cells), unusually high IL-6 production, due to epigenetic changes, and increased neurotoxic cytokines. They hypothesize that the abundance of macrophages and harmful cytokines may play a fundamental role in  disease progression and treatment of certain ALS patients.

“We are now beginning to see a number of new clues on both the familial and sporadic ALS pathogenesis landscapes, some quite unanticipated as in this important study,” said Thoru Pederson, editor-in-chief of The FASEB Journal, in a press release. “Considering the dearth of effective treatments for this devastating disease, all new findings such as these are welcome indeed.”