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Scientists have been able to figure out how the brain is damaged in Down syndrome
Last reviewed: 01.07.2025
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Scientists have managed to find out how the brain is damaged in Down syndrome, as reported in the journal Biological Psychiatry.
Down syndrome is the most common genetic disorder today. It occurs due to a disorder in the chromosome set. Instead of the usual two chromosomes, number 21, three appear. This leads to disorders in the child's physical and mental development. People with this disorder have a characteristic appearance, pathologies of many organs, as well as mental development disorders, which can be mild or severe. However, in any case, it tends to worsen with age.
To date, it is not possible to treat this disease. But scientists continue their research. Thus, a team of researchers from Stanford University led by Dr. Ahmad Salehi devoted their work to studying the brain of patients with Down syndrome. This research lasted more than 10 years.
To do this, they created a model of Down syndrome on mice using the latest methods. In this way, they were able to study the brain structure disorders associated with this disease. The scientists discovered increased expression of the gene encoding the amyloid precursor protein. This gene is located on chromosome 21. And the protein produced in large quantities led to damage to neurons, i.e. brain cells.
It is interesting that this same protein is considered to be the cause of Alzheimer's disease. This disease with brain damage develops in old age. In Alzheimer's disease, amyloid proteins accumulate and damage brain cells. At the same time, patients have a normal number of chromosomes. Most likely, the matter is in the mutation of the gene encoding the amyloid precursor protein. Scientists claim that cognitive impairment and damage to nerve cells in Down syndrome and Alzheimer's disease are similar.
So, scientists are confident that understanding how the brain is damaged in Down syndrome will soon help people with this disease. Perhaps doctors will be able to partially preserve cognitive functions in children and adults. The authors of the study called on families with patients with Down syndrome to support further research.
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