Human Stem Cell Modeling in Neurofibromatosis Type 1 (NF1)

Overview

Journal Exp Neurol

Specialty Neurology

Date 2017 Apr 11

PMID 28392281

Citations 16

Authors

Michelle L Wegscheid

Corina Anastasaki

David H Gutmann

Affiliations

Soon will be listed here.

Abstract

The future of precision medicine is heavily reliant on the use of human tissues to identify the key determinants that account for differences between individuals with the same disorder. This need is exemplified by the neurofibromatosis type 1 (NF1) neurogenetic condition. As such, individuals with NF1 are born with a germline mutation in the NF1 gene, but may develop numerous distinct neurological problems, ranging from autism and attention deficit to brain and peripheral nerve sheath tumors. Coupled with accurate preclinical mouse models, the availability of NF1 patient-derived induced pluripotent stem cells (iPSCs) provides new opportunities to define the critical factors that underlie NF1-associated nervous system disease pathogenesis and progression. In this review, we discuss the generation and potential applications of iPSC technology to the study of NF1.

Citing Articles

Pediatric Tumors as Disorders of Development: The Case for In Vitro Modeling Based on Human Stem Cells.

Clairmont C, Gell J, Lau C Cancer Control. 2024; 31:10732748241270564.

PMID: 39118322 PMC: 11311176. DOI: 10.1177/10732748241270564.

An Overview of Optic Pathway Glioma With Neurofibromatosis Type 1: Pathogenesis, Risk Factors, and Therapeutic Strategies.

Chen Y, Yu J, Ge S, Jia R, Song X, Wang Y Invest Ophthalmol Vis Sci. 2024; 65(6):8.

PMID: 38837168 PMC: 11160950. DOI: 10.1167/iovs.65.6.8.

Generation of heterozygous and homozygous NF1 lines from human-induced pluripotent stem cells using CRISPR/Cas9 to investigate bone defects associated with neurofibromatosis type 1.

Darle A, Mahiet T, Aubin D, Doyen M, El Kassar L, Parfait B Front Cell Dev Biol. 2024; 12:1359561.

PMID: 38481529 PMC: 10935092. DOI: 10.3389/fcell.2024.1359561.

Characterization of Dental Pulp Stem Cell Populations in the Teeth of Patients With Neurofibromatosis Type 1 - Therapeutic Potential for Bone Tissue Engineering.

Yan M, Wang W, Speth U, Kluwe L, Fuest S, Gosau M In Vivo. 2023; 37(2):548-558.

PMID: 36881087 PMC: 10026680. DOI: 10.21873/invivo.13113.

Malignant peripheral nerve sheath tumor: models, biology, and translation.

Somatilaka B, Sadek A, McKay R, Le L Oncogene. 2022; 41(17):2405-2421.

PMID: 35393544 PMC: 9035132. DOI: 10.1038/s41388-022-02290-1.

References

Kreitzer F, Salomonis N, Sheehan A, Huang M, Park J, Spindler M . A robust method to derive functional neural crest cells from human pluripotent stem cells. Am J Stem Cells. 2013; 2(2):119-31. PMC: 3708511. View

Xie F, Ye L, Chang J, Beyer A, Wang J, Muench M . Seamless gene correction of β-thalassemia mutations in patient-specific iPSCs using CRISPR/Cas9 and piggyBac. Genome Res. 2014; 24(9):1526-33. PMC: 4158758. DOI: 10.1101/gr.173427.114. View

Zhu Y, Harada T, Liu L, Lush M, Guignard F, Harada C . Inactivation of NF1 in CNS causes increased glial progenitor proliferation and optic glioma formation. Development. 2005; 132(24):5577-88. PMC: 2760350. DOI: 10.1242/dev.02162. View

Maherali N, Ahfeldt T, Rigamonti A, Utikal J, Cowan C, Hochedlinger K . A high-efficiency system for the generation and study of human induced pluripotent stem cells. Cell Stem Cell. 2008; 3(3):340-5. PMC: 3987901. DOI: 10.1016/j.stem.2008.08.003. View

Dai P, Harada Y, Takamatsu T . Highly efficient direct conversion of human fibroblasts to neuronal cells by chemical compounds. J Clin Biochem Nutr. 2015; 56(3):166-70. PMC: 4454078. DOI: 10.3164/jcbn.15-39. View

Gore A, Li Z, Fung H, Young J, Agarwal S, Antosiewicz-Bourget J . Somatic coding mutations in human induced pluripotent stem cells. Nature. 2011; 471(7336):63-7. PMC: 3074107. DOI: 10.1038/nature09805. View

Sugiura M, Kasama Y, Araki R, Hoki Y, Sunayama M, Uda M . Induced pluripotent stem cell generation-associated point mutations arise during the initial stages of the conversion of these cells. Stem Cell Reports. 2014; 2(1):52-63. PMC: 3916761. DOI: 10.1016/j.stemcr.2013.11.006. View

Reinhardt P, Schmid B, Burbulla L, Schondorf D, Wagner L, Glatza M . Genetic correction of a LRRK2 mutation in human iPSCs links parkinsonian neurodegeneration to ERK-dependent changes in gene expression. Cell Stem Cell. 2013; 12(3):354-67. DOI: 10.1016/j.stem.2013.01.008. View

Lin T, Wu S . Reprogramming with Small Molecules instead of Exogenous Transcription Factors. Stem Cells Int. 2015; 2015:794632. PMC: 4397468. DOI: 10.1155/2015/794632. View

10.

Raja W, Mungenast A, Lin Y, Ko T, Abdurrob F, Seo J . Self-Organizing 3D Human Neural Tissue Derived from Induced Pluripotent Stem Cells Recapitulate Alzheimer's Disease Phenotypes. PLoS One. 2016; 11(9):e0161969. PMC: 5021368. DOI: 10.1371/journal.pone.0161969. View

11.

Seki T, Yuasa S, Fukuda K . Generation of induced pluripotent stem cells from a small amount of human peripheral blood using a combination of activated T cells and Sendai virus. Nat Protoc. 2012; 7(4):718-28. DOI: 10.1038/nprot.2012.015. View

12.

Ban H, Nishishita N, Fusaki N, Tabata T, Saeki K, Shikamura M . Efficient generation of transgene-free human induced pluripotent stem cells (iPSCs) by temperature-sensitive Sendai virus vectors. Proc Natl Acad Sci U S A. 2011; 108(34):14234-9. PMC: 3161531. DOI: 10.1073/pnas.1103509108. View

13.

Ohlemacher S, Sridhar A, Xiao Y, Hochstetler A, Sarfarazi M, Cummins T . Stepwise Differentiation of Retinal Ganglion Cells from Human Pluripotent Stem Cells Enables Analysis of Glaucomatous Neurodegeneration. Stem Cells. 2016; 34(6):1553-62. PMC: 4892962. DOI: 10.1002/stem.2356. View

14.

Hockemeyer D, Wang H, Kiani S, Lai C, Gao Q, Cassady J . Genetic engineering of human pluripotent cells using TALE nucleases. Nat Biotechnol. 2011; 29(8):731-4. PMC: 3152587. DOI: 10.1038/nbt.1927. View

15.

Uusitalo E, Hammais A, Palonen E, Brandt A, Makela V, Kallionpaa R . Neurofibromatosis type 1 gene mutation analysis using sequence capture and high-throughput sequencing. Acta Derm Venereol. 2014; 94(6):663-6. DOI: 10.2340/00015555-1843. View

16.

Huch M, Koo B . Modeling mouse and human development using organoid cultures. Development. 2015; 142(18):3113-25. DOI: 10.1242/dev.118570. View

17.

Shitamukai A, Konno D, Matsuzaki F . Oblique radial glial divisions in the developing mouse neocortex induce self-renewing progenitors outside the germinal zone that resemble primate outer subventricular zone progenitors. J Neurosci. 2011; 31(10):3683-95. PMC: 6622781. DOI: 10.1523/JNEUROSCI.4773-10.2011. View

18.

Jett K, Friedman J . Clinical and genetic aspects of neurofibromatosis 1. Genet Med. 2009; 12(1):1-11. DOI: 10.1097/GIM.0b013e3181bf15e3. View

19.

Hambright D, Park K, Brooks M, McKay R, Swaroop A, Nasonkin I . Long-term survival and differentiation of retinal neurons derived from human embryonic stem cell lines in un-immunosuppressed mouse retina. Mol Vis. 2012; 18:920-36. PMC: 3335781. View

20.

Hu K . All roads lead to induced pluripotent stem cells: the technologies of iPSC generation. Stem Cells Dev. 2014; 23(12):1285-300. PMC: 4046204. DOI: 10.1089/scd.2013.0620. View