American scientists from the Broad Institute in Massachusetts have announced a breakthrough in understanding the causes of Huntington’s disease, an incurable hereditary disease that affects a person’s brain in the prime of life. The study was published in the scientific journal magazine Cell.
Huntington’s disease runs in families but usually occurs between the ages of 30 and 50. It destroys nerve cells in certain parts of the brain, causing movement, thought and behavioral disorders, and even death.
It is known that the pathology is associated with a genetic mutation that produces toxic proteins. But it was unclear exactly what causes Huntington’s disease to become active later in life.
In the new study, researchers examined donated brain tissue from 53 Huntington’s disease patients and 50 healthy people.
The team focused on the Huntington mutation, which involves a section of DNA in a specific gene in which a three-letter sequence (CAG) is repeated at least 40 times.
In people without the disease, this sequence is repeated only 15 to 35 times. Scientists have found that DNA tracts containing 40 or more of these “repeats” expand over time until they are hundreds of CAGs long. When CAGs reach a threshold around 150, certain types of neurons begin to die.
The research team estimated that the repeat pathways grow slowly during the first two decades of life, and then the rate increases sharply when it reaches about 80 CAG.
The scientists hope their findings will help scientists find ways to delay or prevent the incurable disease by stopping DNA repeats from expanding.
Previous researchers Successful It reverses the symptoms of Huntington’s disease by preventing the clumping of abnormal proteins.
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Source: Gazeta
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