The cause of dementia
Genome editing helped to identify the occurrence of a rare disease
A group of scientists from various scientific institutions has found out how mental retardation and other brain disorders are formed with a rare genetic disease – WAGR syndrome. An article about this was published in the journal Nature Communications (Peter et al., In vivo epigenetic editing of Sema6a promoter reverses transcallosal dysconnectivity caused by C11orf46/Arl14ep risk gene).
WAGR syndrome is also known as chromosome 11p13 deletion syndrome. It can occur when a part of a gene or the entire gene located in the region of chromosome 11p13 is accidentally deleted. With this disease, patients develop a complex of symptoms, including nephroblastoma, absence of the iris, pathology of the genitals and mental retardation. Although this disease is quite rare, it significantly shortens the life of its carriers and condemns them to constant medical supervision.
In a new paper, scientists from Johns Hopkins University, Mount Sinai Medical Center School of Medicine and New York University have found a gene that is responsible for the development of mental retardation in WAGR syndrome. To do this, the researchers used RNA-guided epigenetic editing using the dCas9-SunTag tool.
This allowed scientists to reduce the amount of C11orf46 protein produced in the brains of mice. It turned out that the chains of neurons in the mouse brain with a smaller amount of C11orf46 protein could not form a physiological corpus callosum. This phenomenon can lead to conditions such as mental retardation, autism or other disorders of brain development. The same thing happens with WAGR syndrome.
Using the modified CRISPR genome editing system, the researchers were able to edit a part of the gene responsible for pathological processes. This epigenome editing allowed C11orf46 to bind and turn off the gene in the brains of mice. Such mice then showed a complete restoration of the original structure of the corpus callosum and were able to function normally.
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