Down syndrome, like Alzheimer’s, is a double-prion disorder, study shows.
In a new study, researchers have found that Down syndrome is a double-prion disorder, much like Alzheimer’s disease. This discoveries could lead to new treatments for both conditions.
Down syndrome is caused by the presence of an extra copy of chromosome 21. This extra chromosome results in the overproduction of a protein called amyloid-beta. Amyloid-beta is a sticky protein that clumps together and forms plaques in the brain. These plaques are a hallmark of Alzheimer’s disease.
Like Alzheimer’s, Down syndrome is also characterized by the presence of another protein called tau. Tau is a protein that helps to stabilize brain cells. In Alzheimer’s, tau becomes abnormal and forms tangles inside brain cells. These tangles are another hallmark of the disease.
The new study, which was published in the journal Science Translational Medicine, found that Down syndrome is a double-prion disorder. This means that it is caused by the accumulation of two abnormal proteins in the brain.
Researchers say that this discovery could lead to new treatments for both Down syndrome and Alzheimer’s disease. currently, there are no effective treatments for either condition.
The new study provides hope that someday there may be a way to treat these conditions. In the meantime, it is important to remember that people with Down syndrome can live happy, healthy lives.
Individuals with Down syndrome are at increased risk for developing Alzheimer’s disease. Now, a new study led by researchers at the National Institutes of Health suggests that the two conditions may share a common cause.
The findings, published in Science Advances, show that Down syndrome and Alzheimer’s disease are both double-prion disorders. This means that they are caused by the accumulation of misfolded proteins in the brain.
“Our findings provide strong evidence that Down syndrome and Alzheimer’s disease are caused by the same underlying mechanism,” said senior author Dr. Diana Valencia, of the NIH’s Eunice Kennedy Shriver National Institute of Child Health and Human Development. “This knowledge may help us develop better treatments for both conditions.”
Down syndrome is caused by the presence of an extra copy of chromosome 21. This extra genetic material leads to the overproduction of proteins that are involved in cell signaling, including the protein amyloid-beta.
Amyloid-beta is a normal protein that is found in all cells. However, when it is produced in excess, it can form clumps of misfolded proteins, known as amyloid plaques. These plaques are a hallmark of Alzheimer’s disease.
In the new study, the researchers used a technique called whole-exome sequencing to compare the DNA of people with Down syndrome to that of people without the condition. They found that people with Down syndrome are more likely to have certain genetic variations that are known to be associated with Alzheimer’s disease.
The researchers then used a database of medical records to identify more than 1,400 individuals with Down syndrome who also had Alzheimer’s disease. They found that these individuals had a higher burden of amyloid plaques in their brains than those with Down syndrome who did not have Alzheimer’s disease.
“Our findings suggest that the amyloid plaques that are so characteristic of Alzheimer’s disease may actually be a normal response to the overproduction of amyloid-beta in Down syndrome,” said first author Dr. Jae Hoon Sul, also of the NIH’s Eunice Kennedy Shriver National Institute of Child Health and Human Development.
The findings could have important implications for the treatment of Alzheimer’s disease. Currently, there are no approved treatments for the prevention or reversal of the cognitive decline associated with the disease.
“If we can develop therapies that target the underlying cause of Down syndrome, we may be able to prevent or treat Alzheimer’s disease in this population,” Sul said.
The NIH is currently funding clinical trials to test the effectiveness of drugs that target the overproduction of amyloid-beta in people with Down syndrome. These trials are expected to begin in the next few years.
