Detection of genes causing Down syndrome

US scientists believe they have discovered the cause of nerve damage in people with Down syndrome. They found a gene that, if produced too much, could cause some brain cells to function abnormally

US scientists believe they have discovered the cause of nerve damage in people with Down syndrome.

Picture 1 of Detection of genes causing Down syndrome

(Photo: BBC)

They found a gene that, if produced too much, could cause some brain cells to function abnormally. Scientists hope to find a way to turn off that gene that will help prevent mental decline or reverse the situation.

People with Down have 3 chromosome 21 versions instead of 2 normal versions. Many people with Down syndrome later develop schizophrenia, like the early stages of Alzheimer's disease, at the age of 40.

In both diseases, brain cells are responsible for learning, remembering and paying attention to gradually fade away and die.

The team, led by William Mobley, director of the Neuroscience Institute at Stanford University, investigated in mice and found mice with three gene versions of App, on chromosome 21, with larger neurons. The mice have 2 gene versions.

Mobley believes that the App causes cells to die by interrupting signal exchanges between cells to keep them healthy.

It is still known that a variant of the App gene causes Alzheimer's disease in the early stages, but there are three versions of this gene that damage the brain more severely.

Mobley said the next step is to find out the mechanism of this process and find out if there is any way to turn off the activity of this gene."If we can block the activity of this gene, we can find better treatment for Down patients."

MT

Update 14 December 2018
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