Scientists managed to find out how the brain is damaged in Down syndrome
Last reviewed: 23.04.2024
All iLive content is medically reviewed or fact checked to ensure as much factual accuracy as possible.
We have strict sourcing guidelines and only link to reputable media sites, academic research institutions and, whenever possible, medically peer reviewed studies. Note that the numbers in parentheses ([1], [2], etc.) are clickable links to these studies.
If you feel that any of our content is inaccurate, out-of-date, or otherwise questionable, please select it and press Ctrl + Enter.
Scientists managed to find out how the brain is damaged in Down's syndrome, according to the journal Biological Psychiatry.
Down's syndrome is by far the most common genetic disease. It arises from a violation in the set of chromosomes. Instead of the usual two chromosomes, at number 21, three appear. This leads to violations in the physical and mental development of the child. People with this disease have a characteristic appearance, pathologies of many organs, as well as a violation of mental development, which can be weakly and strongly pronounced. However, in any case, with age it tends to get worse.
To date, this disease is not possible. But scientists continue to research. Thus, a team of researchers from Stanford University, led by Dr. Ahmad Salehi, devoted her work to studying the brain of patients with Down syndrome. This study lasted more than 10 years.
For this, using the newest methods, they created a model of Down syndrome in mice. So they managed to study the brain structure disorders in this disease. Scientists have found amplified expression of the gene that encodes the amyloid precursor protein. This gene is located in 21 chromosomes. And the protein produced in large quantities led to neuronal damage, i.e. Cells of the brain.
Interestingly, the 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. In this case, the patients have a normal number of chromosomes. Most likely, the matter is in the mutation of the gene that encodes the amyloid precursor protein. Scientists claim that cognitive dysfunction and nerve cell damage in Down syndrome and Alzheimer's disease are similar.
So, scientists are sure 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 author of the study called on families in which there are patients with Down syndrome to support further research.