Release date: 2014-12-10
The famous physicist Stephen Hawking is a patient with ALS. He has been fighting the disease for more than 40 years and is a miracle.
Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is often not strictly called "frozen human disease" in Chinese. This summer's "ice bucket challenge" has made many people aware of this disease. If you don't know it, check it out here. Unfortunately, the cause of this disease has been unknown. A recent study found a number of mutations associated with ALS, suggesting that genetics are more important than previously thought. The study was published in the November 27 issue of the journal Annals of Neurology.
Among ALS patients, only about 5%-10% of family members also have this disease, which means that there are genetic factors in these cases. The remaining 90%-95% of the cases are "distributed" cases, that is, they have no family history to trace, the cause is often a mystery.
But the latest study, by analyzing DNA from nearly 400 patients with ALS, found that more than a quarter of sporadic cases were associated with new or rare genetic mutations. These genetic mutations can lead to the development of ALS.
“These new discoveries reveal the genetic origins of ALS, especially for patients who have no family history.†Researcher Robert Baloh, head of the ALS program at the Cedarsini Medical Center in Los Angeles, introduced the study. Say.
ALS is a progressive neurological condition that can eventually lead to loss of function in muscles responsible for voluntary movement, such as walking, talking and eating. The life expectancy of a patient is usually 3 to 5 years. This finding suggests that in all ALS cases (including hereditary and sporadic seizures), more than one-third of the cases are genetically related.
Barro believes that the study failed to confirm that these mutations are the direct cause of ALS, but these mutations are highly likely to be associated with the onset of ALS.
The study also found that two or more ALS-related gene mutations were 10 years older than patients with only a single gene defect.
Dr. Matthew B. Harms, an assistant professor of neurology at Washington University in St. Louis, said that more research is needed on other genes that affect the risk of ALS.
The ice bucket challenged the craze and the concern for rare diseases such as ALS continued.
Source: Shell Network
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| Item | Specification |
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