Japanese scientists have achieved what was not yet possible – removing an additional 21 chromosome from the cells of people with Down syndrome using the CRISPR method. This is a step that can change the future of this disease.
Scientists remove the additional chromosome responsible for Down syndrome using CRISPR.
In Japan, scientists made an incredible breakthrough: they used CRISPR to remove the additional chromosome responsible for Down syndrome – in human cells grown in a laboratory.
Down syndrome occurs when a person is born with three copies of chromosome 21 instead of two, which is called trisomy 21. This additional DNA fragment impairs cell growth and function. So far, it has not been possible to remove the entire chromosome directly.
Using the CRISPR method called an allele-specific edition, scientists were able to target only the third chromosome 21, without affecting the other two. After the removal of "saved" cells began to behave more like typical cells: they showed healthier growth, reduced stress markers and more balanced activity of genes associated with brain development and cell health.
Japanese scientists, using CRISPR technology, effectively removed chromosome 21, thus eliminating the risk of Down syndrome in the embryo. With this technology, genetic diseases will go back to the past!
That's amazing!
How Down syndrome arises
Down syndrome is a result of chromosome 21 trisomy– it is the presence of three copies of this chromosome that determines the specific set of characteristics and the greater susceptibility to health problems.
People with Down syndrome may haveamong others, heart defects, learning difficulties, reduced immunity or typical features of appearance. Overproduction of proteins associated with an additional chromosome also increases the risk of diseases such as leukemia or Alzheimer's.
So far, medicine has focused on relieving symptoms and improving the comfort of life, but has not offered causal therapy. The new genetic approach changes things.
Japanese breakthrough – what is it?
The key innovation of scientists from Mie University is the use of CRISPR-Cas9 gene editing technology, which acts as precise "genetic scissors".
In simplification, researchers designed special guides that aimed only at an additional chromosome 21. This allowed them to "cut out" the unnecessary copy, leaving the cells with the correct set of genes.
- Cells obtained in the lab recovered a typical gene expression profile.
- They managed to restore their natural functioning, which was previously impossible at the levelin vitro.
Restrictions and next challenges
The results were obtained only under laboratory conditions – the procedure is not ready to be applied at the level of the whole body.
Every human cell with Down syndrome has an extra chromosome. It is technologically impossible to remove it in the body of a newborn or an adult.
Potential Risks and Ethics
- Current techniques can lead to undesirable changes in healthy chromosomes.
- Before the method goes to clinics, the risk of mutations must be eliminated and safe conditions determined for patients determined.
This breakthrough study opens the door to the development of genetic therapy modifying specific nerve or gile cells. Experts predict that similar technologies can introduce completely new solutions to the treatment of Down syndrome in a few years.
Japanese experience shows that the future of gene therapy is getting closer – Asia can set a path for breakthrough therapies also in Europe.
