Studies performed by a Sanford research scientist using an innovative stem-cell model for Smith-Lemli-Opitz syndrome (SLOS) is the focus of a recent study published in Nature Medicine.
Kevin Francis PhD uncovered unique cellular defects associated with SLOS by modeling this disease using induced pluripotent stem cells.
SLOS is a rare developmental disorder caused by mutations in the enzyme DHCR7 responsible for the final step in the production of cholesterol. DHCR7 mutations prevent 7-dehydrocholesterol (7DHC) conversion to cholesterol. Impaired cholesterol synthesis underlies a group of human disorders, including SLOS, that are characterized by cognitive impairment, congenital malformations and distinct behavioral phenotypes, including autism.
Francis and his team used induced pluripotent stem cells, derived from patient skin cells to reveal novel changes in cellular events regulated by cholesterol synthesis, including a set of proteins critical for brain development and function known as the Wnt signaling pathway. Further, Francis noted that 7DHC accumulation, not cholesterol deficiency, was a hallmark of these cells.
Source: News Release
Stanford Health/Stanford Research
April 20, 2016