Using embryonic stem cells derived from mice carrying a human gene known to cause a form of amyotrophic lateral sclerosis (ALS), a team of Harvard researchers has created an in vitro model of this always-fatal neurodegenerative disease.
HSCI Principal Faculty member Kevin Eggan, PhD, and Tom Maniatis, PhD, of Harvard’s Faculty of Arts and Sciences, were the senior authors of this work, which was published in the journal Nature Neuroscience in April.
Eggan, Maniatis, and their colleagues also found that substances produced by a form of glial cells— cells that normally support neurons—cause the damage in motor neurons associated with ALS, which is also known as Lou Gehrig’s disease.
These discoveries have major implications for the field of embryonic stem cell research because, Eggan explains, if one has embryonic stem cells that carry the genes for a disease— in this case, ALS—“you can make limitless quantities of the cells affected by the disease, study the disease process, and have an in vitro model for studying possible treatments.”
Most public discussion about stem cell research has focused on the possible uses for stem cells in treating disease, but Maniatis notes that this advance “establishes using stem cells to study the mechanism of disease, and…to find treatments.”
Eggan and Maniatis point out that the same techniques they used to establish the ALS model could be used to develop models for studying and screening for drug treatments in a host of human diseases.
Eggan made the analogy that using embryonic stem cell models for studying disease could potentially have the same impact on increasing the understanding of human disease that installing so-called “black boxes” in airplanes has had on understanding the causes of crashes. The installation of black boxes, which provide data from an entire flight, “made it possible to understand the earliest events” that might have contributed to a crash, says Eggan.
“If all we have to study a disease is material from a patient in whom the symptoms are already present, we may have no way to determine what initially triggered those symptoms,” Eggan explains. “But like the black boxes in aviation, these embryonic stem cells allow us to study the very earliest disease mechanisms in the lab.”