Recent Study Finds Connection Between ALS and Spinal Muscular Atrophy
A study published in the September 28 edition of Cell Reports indicates that ALS and another disease involving motor neurons called spinal muscular atrophy (SMA) are linked at the molecular level. The research, led by Robin Reed, Ph.D., Professor of Cell Biology at Harvard Medical School in Boston, Massachusetts, offers new insights into the disease process in both diseases.
ALS affects adults; SMA affects children. Both diseases are caused by the death of motor neurons, cells that control muscle and allow movement. One cause of ALS is a mutation in a gene called FUS. SMA is caused by mutation in a gene called SMN. In this new study, the team, which involved scientists from the United States, the United Kingdom and China, investigated the interactions of the FUS protein with the SMN protein. They found that the two proteins physically link up in the cell nucleus. That discovery was the first indication that a protein involved in ALS interacts with the protein involved in SMA. The finding suggests that this pathway may be disrupted in both diseases.
“This new finding will help accelerate the understanding of the causes of ALS because scientists have now identified a critical link between two very different diseases that both cause the degeneration of motor neurons. That link is likely to play an important role in the ALS disease pathway,” said The ALS Association Chief Scientist, Lucie Bruijn, Ph.D.
The ALS Association contributed funding to support two of the researchers involved in the study through its Translational Research Advancing Therapies for ALS (TREAT ALS™) program. The program supports a diverse portfolio of research every year in order to find treatments and a cure for Lou Gehrig’s Disease.
Read our press release on this recent study.