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New Study Finds NF1 Mutations Have Varying Effects in Human Brain Cells

In the recently published study in Stem Cell Reports, Corina Anastasaki, PhD, Michelle Wegscheid, MD, PhD candidate, and colleagues sought to determine whether different NF1 gene mutations found in patients with NF1 have different effects on human brain cells. To achieve this, the authors used seven human induced pluripotent stem cell lines with different NF1 patient NF1 gene mutations to grow different brain cell types, both as individual cell types, like nerve cells (neurons), but also as three-dimensional (3D) mini-brains (cerebral organoids). They definitely showed that while all mutations increased the production of support cells (astrocytes), mini-brains with different NF1 mutations produced different numbers of neurons. This study opens the door to future investigations into how different NF1 mutations cause different features in people with NF1.

Anastasaki C, Wegscheid ML, Hartigan K, Papke JB, Kopp ND, Chen J, Cobb O, Dougherty JD, Gutmann DH. Human iPSC-Derived Neurons and Cerebral Organoids Establish Differential Effects of Germline NF1 Gene Mutations. Stem Cell Reports. 2020 Apr 14;14(4):541-550. doi: 10.1016/j.stemcr.2020.03.007. Epub 2020 Apr 2. PMID: 32243842