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Scientist models Smith-Lemli-Opitz syndrome in adult stem cells

Date:
April 20, 2016
Source:
Sanford Health/Sanford Research
Summary:
Studies using an innovative stem-cell model for a fatal developmental disorder is the focus of a recent study. An expert has uncovered unique cellular defects associated with Smith-Lemli-Opitz syndrome (SLOS) by modeling this disease using induced pluripotent stem cells.
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This is Kevin Francis, Ph.D.
Credit: Sanford Health

Studies performed by a Sanford Research scientist using an innovative stem-cell model for a fatal developmental disorder is the focus of a recent study published in Nature Medicine. Kevin Francis, Ph.D. uncovered unique cellular defects associated with Smith-Lemli-Opitz syndrome (SLOS) by modeling this disease using induced pluripotent stem cells.

Francis' study is titled "Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypes."

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. Specific to SLOS, patients experience delayed development and malformations in certain organs like the brain, heart and liver.

Francis and his team used induced pluripotent stem cells, which have the ability to form many types 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.

Nature Medicine is a biomedical research journal that publishes the latest advances in biomedical research for scientists and physicians.


Story Source:

Materials provided by Sanford Health/Sanford Research. Note: Content may be edited for style and length.


Journal Reference:

  1. Kevin R Francis, Amy N Ton, Yao Xin, Peter E O'Halloran, Christopher A Wassif, Nasir Malik, Ian M Williams, Celine V Cluzeau, Niraj S Trivedi, William J Pavan, Wonhwa Cho, Heiner Westphal, Forbes D Porter. Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypes. Nature Medicine, 2016; 22 (4): 388 DOI: 10.1038/nm.4067

Cite This Page:

Sanford Health/Sanford Research. "Scientist models Smith-Lemli-Opitz syndrome in adult stem cells." ScienceDaily. ScienceDaily, 20 April 2016. <www.sciencedaily.com/releases/2016/04/160420211134.htm>.
Sanford Health/Sanford Research. (2016, April 20). Scientist models Smith-Lemli-Opitz syndrome in adult stem cells. ScienceDaily. Retrieved May 8, 2017 from www.sciencedaily.com/releases/2016/04/160420211134.htm
Sanford Health/Sanford Research. "Scientist models Smith-Lemli-Opitz syndrome in adult stem cells." ScienceDaily. www.sciencedaily.com/releases/2016/04/160420211134.htm (accessed May 8, 2017).