A rare subset of patients with amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, has been found to recover from the deadly neurological disorder. Now, scientists may have identified a key genetic factor that explains why these individuals are able to partially or completely recover from the disease.
The study analyzed DNA from saliva samples collected from 22 people who had been diagnosed with ALS but spontaneously recovered. Researchers compared this data to similar patients whose ALS continued to progress. The team found that individuals with a mutation in a gene called IGFBP7 were 12 times more likely to recover from ALS.
IGFBP7 codes for a protein that dampens the effects of insulin-like growth factor-1 (IGF-1), which is thought to protect motor neurons that control movement. ALS patients typically have low levels of IGF-1, and clinical trials have had mixed results when trying to increase IGF-1 levels.
The study’s findings suggest that inhibiting IGFBP7 could be a more successful approach to treating ALS. However, many questions remain unanswered, such as why some individuals develop ALS in the first place if they have enhanced IGF-1 activity, and whether the observed recoveries are lifelong.
While this breakthrough is exciting, researchers emphasize that more work needs to be done before it can lead to new efficacious treatments for ALS. The disease currently has no cure, and patients typically die within three to five years of their symptoms beginning.
Source: https://www.livescience.com/health/genetics/some-people-recover-from-als-now-we-might-know-why