Get SuperDani Stem Cells to Attack Mitchell Syndrome

A team from the Biomedical Research Center (CIBM) of the University of Granada is advancing in the Superdani Project, the first European study aimed at testing therapies against Mitchell syndrome, an ultra-rare neurodegenerative disease of which there are only 30 cases registered in the world, one of them, andl of the Grenadian child Dani.

On the eve of the concert of the Blues Band Granadato recreate the disease to try different therapies on them. To this end, three different models are being generated: patient cell cultures, zebrafish and laboratory mice.

For the development of the first model, in January of this year cells were extracted from the skin of little Dani, one and a half years old, cultured in the laboratory and transferred to the Bof the Public Health System of Andalusia, located in the same CIBM, in the PTS. “Last week we were told that they have already reprogrammed skin cells to stem cells. It is an important step because it is not possible to act directly on the patient and with the skin cells we have already done experiments and verified that they do not present the same alterations as the nervous systembear, "says the specialist.

The next step is to transform those stem cells into the two types of cells most damaged in Mitchell syndrome: neurons, which die progressively in these patients, and oligodendrocytes, responsible for the production of myelin, the fatty layer that covers nerve cells and the connections between them, whose deterioration produces thetypical symptoms of the disease.

In Spain there are only two other patients with the syndrome, a man and his daughter in Murcia, and the CIBM team in Granada has samples from the adult for research.

International collaboration

In addition, it collaborates with the three research groups in the United States that are dedicated to this disease: one inMissouri, with a similar approach to nerve cell production; another in Utah, with zebrafish; and a third in Texas, with the vinegar fly.

The Utah group has sent zebrafish genetic material to Grenada, but the preparation is slow and complex. In the mouse model, it is the one that has made the least progress: first due to technical difficulties - Texan researchers have yet toor they have managed to get a laboratory animal to develop the disease - and secondly for economic reasons: "A new mouse model of this disease can cost 30,000 or 40,000 euros".

“Stem cell experiments are also extremely expensive - they need a growth media specific to the type of cells we want. On each lab insert there are meuros, "recalls Ranea, who stresses that with the 100,000 euros already collected by the project, the first part of the research is guaranteed.

Already approved drugs

The researcher Ramón y Cajal of the Department of Physiology of the UGR clarifies that, within the framework of the SuperDani project, therapies already available will be tested to study whether they producen changes in the different experimental models. “We're not going blind. We rely on drugs already approved by the European Medicines Agency and the US FDA that are effective in neurodegenerative diseases that also affect myelin, such as leukodystrophy or multiple sclerosis, especially antioxidant and myelinating drugs."

This way, remember, the processation is much faster because you don't have to test a chemical compound from the start, with years of clinical trials and safety testing. Especially, he points out, when the patient is a child and the disease, although very variable from one patient to another, progresses very quickly. The average life expectancy is between five and ten years. "Each case is a world," acknowledges the investigatordor.

The terrible symptoms of a disease without a cure

Mitchell syndrome is a progressive neurological disorder caused by a spontaneous mutation in the ACOX1 gene that alters the functioning of peroxisomes, the structures of cells responsible for breaking down fats. By working in an uncontrolled way, they destroy the cells that generate theprotective layer of myelin around nerves and alter the transmission of nerve impulses from the brain to the body. Symptoms include loss of muscle strength and mobility, hearing loss and vision problems, skin rashes, cognitive impairment, and airway involvement.

Source: IDEAL