ADHD in vitro
Neuroscientists have created a culture of "hyperactive" cells
Neuroscientists from Germany, the Netherlands and Switzerland, with the help of Evgeny Svirin, an employee of the Institute of Molecular Medicine of the I. M. Sechenov First Moscow State Medical University, created a culture of induced pluripotent stem cells (iPSCs) of a person with a duplication of the SLC2A3 gene. Apparently, it is this duplication that plays a significant role in the development of attention deficit hyperactivity disorder (ADHD). The article was published in the journal Stem Cell Research.
A 51-year-old woman diagnosed with ADHD and duplication (doubling) of the SLC2A3 gene had a skin fragment taken. It consisted of fibroblasts. This type of cells is most often used when creating iPSCs. The fibroblasts were injected with substances that allow reversing the specialization of cells and making their condition as close as possible to stem cells. Almost all types of cells can be formed from such induced pluripotent stem cells.
iPSCs that have arisen during such reprogramming are able to reproduce and live on a nutrient medium – to form cultures. Analysis of the genomes of subsequent generations of iPSCs showed that they still have a duplication of SLC2A3, that is, their main property, for which the induction was carried out, has been preserved. It is also important that the resulting induced pluripotent stem cells have a normal number of chromosomes, that is, they have neither superfluous nor missing.
A, B – the growth of iPSCs in culture, C – their karyotype. Figure from an article in Stem Cell Research – VM.
Changes in the SLC2A3 gene may presumably be one of the causes of neurological and psychiatric diseases. The fact is that this gene encodes the protein GLUT3, whose function is the transfer of glucose into cells. Glucose serves as the main source of energy for neurons, so violations of its metabolism in the brain can lead to excessive activity or, conversely, reduced excitability of nerve cells. Therefore, having a model to study the effect of SLC2A3 duplication on changes in the physiology of neurons is extremely useful for applied medicine.
It is especially convenient that human cells make up the culture: this allows you to bypass the differences in the properties of neurons that are inevitable when using cells from other animals, and make this model as close to reality as possible. Already, the team is working out ways to "turn" the iPSCs they received into neurons that secrete serotonin.
Attention deficit hyperactivity disorder is a disorder of the development of the central nervous system, in which it is difficult for a person to focus on one thing for a long time and stay in one place; as a rule, patients with ADHD have increased impulsivity. The prevalence of the syndrome is estimated at several percent (depending on the evaluation criteria from 1-2 to 5 or more). ADHD manifests itself in childhood. It is impossible to completely cure it, but adults with this syndrome most often adapt to it to one degree or another.
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