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Stem Cell News

January 19, 2010

Researchers at the New York Neural Stem Cell Institute Link Mutations in Spred1 to Human Development Disorders

Contact: Cari Crockett
April 1, 2010
Phone:  518-489-2124
Email: cariarena@nstemcell.org

Researchers at the New York Neural Stem Cell Institute Link Mutations in Spred1 to Human Development Disorders

Study leads to published paper and cover story in Genes & Development Journal 

Renssselaer, NY — A study led by researchers at the New York Neural Stem Cell Institute has linked mutations in Spred1, a protein that regulates how neural stem cells respond to growth factors, to some symptoms seen in human disorders, including enlarged heads (macrocephaly), learning disabilities and a predisposition to certain cancers.

Neural stem cells carefully regulate how many times they divide in order to provide the correct number of cells in the brain. Environmental signals, called growth factors, in the developing brain help convey information to these stem cells. They can instruct stem cells to divide, differentiate, survive or die. “Disorders in how neural stem cells respond to growth factors are responsible for numerous human developmental disorders, and are also involved in some cancers,” said Timothy Phoenix, a graduate student leading the study at the New York Neural Stem Cell Institute.

In this study, the group characterized the expression and function of Spred1 and identified a link between mutations in Spred1 to a human developmental disorder. They found Spred1 is expressed in neural stem cells in the developing brain and that it helps regulate the proper amount of growth factor signal neural stem cells receive.

“Loss of Spred1 results in increased neural stem cell division, and in some cases can lead to disorganization in the developing brain and formation of neuronal clumps known as periventricular heterotopias, said Dr. Sally Temple, Scientific Director of the NYNSCI. “The findings provide important associations with some symptoms seen in human disorders and a predisposition to certain cancers,” Dr. Temple added.

The research group at the NYNSCI had their research paper published in the highly respected Journal, Genes & Development and was also featured on the cover of the January 1, 2010 edition.

About NYNSCI: The New York Neural Stem Cell Institute is an independent, non-profit organization established to further research on stem cells for nervous system applications. The goal of the NYNSCI is to use neural stem cells to produce nervous system cells in the lab. These cells can be used to understand normal nervous system development and function and to develop therapies for nervous system diseases and disorders, including age-related macular degeneration, spinal cord injury, multiple sclerosis and Parkinson’s disease.

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