Stem cells model disease

Embryonic stem cell study uncovers mechanism for Fragile X gene mutation

Steve Mitchell
Nov 13, 2007
Researchers have used a line of embryonic stem cells carrying the mutation for Fragile X Syndrome, the most common genetic form of mental retardation, to determine when the altered gene exerts its effect during development, according to a study published online this week in Cell Stem Cell. The study, one of the first to use stem cells from an embryo afflicted with a genetic disorder, found that the mutated gene functions normally in early embryogenesis, but is silenced by cell differentiation. Their results suggest that stem cell studies may offer insights to disease pathogenesis that animal models cannot provide, the researchers say. The work "highlights the value of [human embryonic stem cells] as a model system for early human embryo development," the study's coauthor, Rachel Eiges of the Hebrew University in Jerusalem, told The Scientist. "We show that it can be used as a powerful tool to analyze...

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