CDKL5 (cyclin-dependent kinase-like 5) is a gene that is found on the X-chromosome, mutations to this gene lead to a rare genetic disorder. Scientists have discovered the presence of this mutated gene mainly in children suffering from seizures, usually starting from birth to at least two years of age. While many cases that are seen by doctors affect girls because of the gene being found on the X-chromosome, a small percentage does affect boys as well. The seizures from this disorder are difficult to control and scientists are working to get a more comprehensive understanding of the spectrum in which children can be diagnosed.
Scientists have yet to find a known cause but they do know that this gene plays a role in regulating the activity of other genes. "The CDKL5 protein acts as a kinase, which is an enzyme that changes the activity of other proteins by adding oxygen and phosphate atoms (a phosphate group) at specific positions." The proteins in which are targeted by the CDKL5 have yet to be identified but researchers do know that the protein is essential for normal brain and neuron development.
This video explores the use of CBD in stem cell research. The video introduces a girl named Harper Howard who was born with the rare genetic disorder CDKL5. Following her passing from this disorder in 2016, her parents decided to donate her stem cells to scientific research.
Dr. Alysson Muorti, a professor at UCSD with a focus in neurological disorder studies, creates "mini-brains" from stem cells in his lab. These "mini-brains" can be used as a model to test the effectiveness of treatments on a rare genetic disease like Harpers. The donated cells are kept in incubators, this is because conditions need to mimic the human body including the right temperature, humidity, and oxygen. Having a sterile and controlled environment allows the cells to be easily manipulated for study.
Results from multiple trials have concluded that "cannabidiol (CBD) strongly regulates the proliferation, migration and neurogenesis of mesenchymal stem cells (MCSs). These adult stem cells are able to differentiate into the main types of precursor cells and have demonstrated anti-inflammatory, immune, metabolic and self-renewal properties." The cells synchronization are not functioning properly, which is what you see in autism and CDLK5 disorders. Through research and trials, scientists like Dr. Muortri are able to see the cell development and how various treatments can be applied and developed.
Harper's donation to science was especially significant because she provided researchers the only sample of tissue with the CDKL5 mutation which received CBD to treat the disease. This allows Dr. Muotri to study the effects of cannabinoids on her cells. Paving the way for more effective treatments in the future.