Stem cell research provides genetic diseases insight
Stem cell research provides genetic diseases insight
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Monday, 22, Dec 2008 12:01
Stem cell research has provided an "enormous" step forward in the study of genetic diseases, scientists claim.
Research at the University of Wisconsin-Madison recreated the hallmarks of a genetic disorder in a laboratory, using stem cells derived from a patient.
Outlined in the journal Nature today, the study created disease-specific cells by genetically reprogramming skin cells from a patient with spinal muscular atrophy (SMA).
The disease – the most common genetic cause of infant mortality – causes a mutation to lead to the death of nerves that control skeletal muscles, causing muscle weakness, paralysis, and ultimately death, usually by the age of two.
Genetic reprogramming of skin cells turns back the cells' developmental clock and returns them to an embryonic-like state from which they can become any of the body's 220 different cell types.
The resulting induced pluripotent stem cells - known as iPS cells - harness the blank-slate developmental potential of embryonic stem cells without the embryo and have been heralded by experts as a "powerful" potential way to study development and disease.
"When scientists study diseases in humans, they can normally only look at the tissues affected after death and then try to work out – how did that disease happen? It's a little like the police arriving at the scene of a road accident – the car's in the ditch, but they don't know how it got there or the cause of it," explains Clive Svendsen, co-director of the Stem Cell and Regenerative Medicine Centre.
With iPS cells, he says: "Now you can replay the human disease over and over in the dish and ask what are the very early steps that began the process. It's an incredibly powerful new tool."
In the study published today, researchers created iPS cells from stored skin cells of a young SMA patient and his mother, who does not have the disease. The cells were grown in a laboratory and driven to make large numbers of motor neurons - the cells that control muscles and that are affected in SMA.
And after about a month the motor neurons from the patient-derived cells began to disappear.
"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," he says.
Experts claim they can now begin to dissect what kills the motor neurons and why these cells alone are targeted in the disease.
"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," researcher Allison Ebert added.