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A mechanism was found that may explain over 30 genetic diseases

This is according to a study by researchers at the Hebrew University who discovered that the action of the body's natural defense systems against a rare phenomenon of DNA elongation, which over time causes the appearance of severe genetic diseases. Dr. Yuval Tabah, one of the leaders of the study: "This discovery is a significant step towards the development of drug treatment for this group of diseases" 

The team of researchers - Lina Kwasami, Maya Brown, Irin Guberman and Dr. Yuval Tabah. Photo courtesy of Dr. Emiliano Cohen, Hebrew University.
The team of researchers - Lina Kwasami, Maya Brown, Irin Guberman and Dr. Yuval Tabah. Photo courtesy of Dr. Emiliano Cohen, Hebrew University.

A study carried out by researchers from the Faculty of Medicine at the Hebrew University discovered the action of the body's natural defense systems against a rare phenomenon of DNA elongation, which over time causes the appearance of severe genetic diseases. Dr. Yuval Tabah, one of the leaders of the study: "This discovery is a significant step towards the development of drug treatment for this group of diseases"

A new study carried out by three female students from the Faculty of Medicine at the Hebrew University found a mechanism that explains the connection between the phenomenon of DNA elongation in over 30 severe genetic diseases and the symptoms of the diseases. The genetic diseases include, among others, Huntington's disease, ALS and "fragile X" syndrome. Abnormal elongation of the DNA is a relatively rare phenomenon that occurs in very certain regions of the genome, where there is a short sequence of DNA that in healthy people repeats itself several times, but in certain population groups the sequence lengthens in an inexplicable way over the generations and at some point becomes "toxic to the cell" ".
The research was carried out by the Palestinian student Lina Koasemi from East Jerusalem, who received a prestigious scholarship from the British Embassy to carry out the research, and two other outstanding medical and research students Maya Brown and Irin Goberman - led by Dr. Yuval Tabah from the Faculty of Medicine at the Hebrew University.

The researchers discovered that the RNA interference (RNAi) system, which is responsible for a number of essential functions such as protecting the body, preventing a viral attack and regulating gene activity - is able to treat the long DNA sequences found in the patients as foreign and enters a state of attack. When this system attacks, it may get "confused" and act against dozens of other genes that contain similar sequences, which are not long. This process, which is reminiscent of actions that occur in the body mainly in autoimmune diseases, affects and disrupts the activity in the body over the years and causes the symptoms of the diseases to appear.

In the study, the researchers performed a test on the nematode C. elegans, a tiny worm that is about one millimeter long. This worm has a particularly strong RNA interference system, so the researchers were able to clearly see its effect on the long DNA sequences that cause diseases. The researchers inserted long DNA sequences into the worm similar to the disease myotonic dystrophy, and as a result the worms became sick, moved more slowly and responded less well to various types of stress compared to healthy worms. Then, by partially silencing the RNA interference system, the researchers were able to cause a significant improvement in the symptoms of the disease in the worms.

"The research managed to reveal the involvement of the body's natural defense and control systems precisely in the creation of the disease and not in its prevention. This work found a mechanism that can explain a number of genetic diseases, and just as important - this discovery is another significant step towards the development of drug treatment for this group of diseases," claims Dr. Yuval Tabah.

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