It is very rare, but some patients have a fatal neurological disease amyotrophic lateral sclerosis (ALS) is finally recovering – and now, scientists know why.
“More research is needed before we can say with confidence, but this is an exciting breakthrough that could lead to a new, more effective treatment,” Dr. Jesse Craylelead study author and neuroscientist at Washington University in St. Louis, he told Live Science in an email.
About 5,000 new patients every year are diagnosed with ALS in the United States. This disease damages the nerves that control the brain and spinal cord voluntary muscle movements, including those that support breathing. Early symptoms of ALS include muscle tremors and twitching, and over time, the disease progresses, causing patients to have difficulty chewing food, speaking and eventually , let them breathe. Respiratory failure causes most patients to die within three to five years of the onset of their symptoms.
The US Food and Drug Administration (FDA) has approved several medications to manage the symptoms of ALS, such as hesitationwhich slows down the nerve damage caused by this disease. However, there is currently no treatment that can cure this disease.
Related: 11 children have been diagnosed with a new form of ALS
In order to try to find a solution, researchers focused their attention on a rare group of ALS patients who recovered partially or completely from this disease. Until now, it was not known why these patients, who do in less than 1% of casesthey can do this. However, their recovery may shed light on how the disease can be treated.
In a new study, researchers have analyzed DNA from saliva samples collected from 22 people who had been diagnosed with ALS but suddenly recovered.
Most of these people had ALS in middle age, Crayle said. Each patient also experienced changes in their symptoms that were “long enough and long enough” that they no longer fit a recognized pattern of the disease, he said. In one rare case, a person whose illness had progressed to the point where he needed a wheelchair was able to walk again.
Crayle and colleagues compared the DNA of these patients with those of similar ALS patients from the same cohort separate study which ALS had continued to progress. The team found that people with a mutation in a gene called IGFBP7 were 12 times more likely to recover from ALS. The protein’s genes reduce the effects of a second protein, called IGF-1. IGF-1 is considered to protect the nerveswhich controls movement.
ALS patients are known to have this disease lower levels of IGF-1. However, clinical trials in which patients were given increased doses of IGF-1 have was shared results. These findings, published on July 30 in the journal Neurologysuggest that blocking IGFBP7, rather than directly giving patients IGF-1, may be an effective way to treat ALS, the authors say.
However, many questions remain unanswered. For example, it is not known why these patients develop ALS in the first place if they have elevated IGF-1 activity to begin with, Crayle said. It’s also possible that IGFBP7 mutations don’t explain every patient’s recovery, and we don’t yet know whether the changes observed in ALS are lifelong, he said.
“We have a lot of work to do in the future to see if this discovery can be used in new treatments for ALS,” Crayle said.
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