University of Wisconsin-Madison researchers have successfully recreated the hallmarks of a genetic disorder in their lab, using stem cells derived from a patient.
The researchers claim that their work marks an enormous step forward in being able to study and develop new therapies for genetic diseases, as it would provide scientists with a great opportunity to watch the course of a disease unfold in the laboratory.
esearch leader Clive Svendsen has revealed that this breakthrough was achieved while working in collaboration with researchers from the University of Missouri-Columbia.
The researchers also revealed that the team created disease-specific stem cells by genetically reprogramming skin cells from a patient with spinal muscular atrophy (SMA), an inherited disease that is considered to be the most common genetic cause of infant mortality.
In this disease, a mutation leads to the death of such nerves as control skeletal muscles, causing muscle weakness, paralysis, and ultimately death, usually by age two.
During the study, the researchers created induced pluripotent stem (iPS) cells from stored skin cells of a young SMA patient and his mother, who did not have the disease.
They developed a new method to efficiently drive them to make large numbers of motor neurons, the cells that control muscles and that are affected in SMA.
According to them, the motor neurons thrived in both samples initially, but those from the patient-derived cells began to disappear after about a month.
"The motor neurons we got started to die in culture, just like they do in the disease. This is the first validation of a human disease that we've modeled in a culture dish," Nature magazine quoted Svendsen as saying.
He said that the team could then start dissecting what kills the motor neurons, and why such cells alone are targeted in the disease.
UW-Madison researcher Allison Ebert, who is the lead author of the study, said that previous studies to discern the effects of the SMA-causing mutation often relied on the easy-to-obtain skin cells, which are not affected in SMA, and thus those studies offered limited insight into how and why motor neurons die.
"If we start to understand more of the mechanism of why the motor neurons specifically affected in the disease are dying, then potentially new therapies can be developed to intervene at particular times early in development," she said.
The researchers believe that their approach may also prove useful for studying other genetic disorders, such as Huntington's disease.
"We have to find better ways to model complex human diseases that are difficult to reproduce in animals. iPS cells represent a promising new research tool to reach this goal," Svendsen says.