IPSC-derived dopamine neurons reveal differences between monozygotic twins discordant for parkinson's disease

Cell Reports

Volumn 9, Issue 4, 2014, Pages 1173-1182

  Woodard, Chris M ^a   Campos, Brian A ^a   Kuo, Sheng Han ^b   Nirenberg, Melissa J ^c   Nestor, Michael W ^a   Zimmer, Matthew ^a   Mosharov, Eugene V ^b   Sulzer, David ^b,j   Zhou, Hongyan ^a   Paull, Daniel ^a   Clark, Lorraine ^d   Schadt, Eric E ^e   Sardi, Sergio Pablo ^f   Rubin, Lee ^a,g   Eggan, Kevin ^a,g,h   Brock, Mathew ⁱ   Lipnick, Scott ^a   Rao, Mahendra ^a   Chang, Stephen ^a   Li, Aiqun ^a   Noggle, Scott A ^a   more..

^a New York Stem Cell Foundation Laboratory   (United States)

^b Och Spine at New York Presbyterian Hospitals   (United States)

^c NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d NewYork Presbyterian Hospital   (United States)

^e MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^f SANOFI   (France)

^g Harvard University   (United States)

^h HARVARD STEM CELL INSTITUTE   (United States)

ⁱ AXION BIOSYSTEMS   (United States)

^j NEW YORK STATE PSYCHIATRIC INSTITUTE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA SYNUCLEIN; AMINE OXIDASE (FLAVIN CONTAINING) ISOENZYME B; GLUCOSYLCERAMIDASE; AMINE OXIDASE (FLAVIN CONTAINING); BIOLOGICAL MARKER; DOPAMINE; MONOAMINE OXIDASE INHIBITOR;

AGED; ARTICLE; CASE REPORT; CONTROLLED STUDY; DOPAMINERGIC NERVE CELL; ENZYME ACTIVITY; ENZYME REGULATION; FIBROBLAST; FLUORESCENCE ACTIVATED CELL SORTING; GENE MUTATION; GENE OVEREXPRESSION; HUMAN; HUMAN CELL; MALE; MONOZYGOTIC TWINS; PARKINSON DISEASE; PLURIPOTENT STEM CELL; PROTEIN BLOOD LEVEL; PROTEIN FUNCTION; PROTEIN HOMEOSTASIS; PROTEIN SECRETION; PROTEIN SYNTHESIS; WHOLE CELL PATCH CLAMP; CELL MEMBRANE; DRUG EFFECTS; ENZYMOLOGY; FLOW CYTOMETRY; GENETICS; METABOLISM; MUTATION; PATHOLOGY; PHENOTYPE; SEQUENCE ANALYSIS; TWINS;

ALPHA-SYNUCLEIN; BIOMARKERS; CELL MEMBRANE; DOPAMINE; DOPAMINERGIC NEURONS; FLOW CYTOMETRY; GLUCOSYLCERAMIDASE; HUMANS; INDUCED PLURIPOTENT STEM CELLS; MALE; MONOAMINE OXIDASE; MONOAMINE OXIDASE INHIBITORS; MUTATION; PARKINSON DISEASE; PHENOTYPE; SEQUENCE ANALYSIS, RNA; TWINS, MONOZYGOTIC;

EID: 84912058317     PISSN: None     EISSN: 22111247     Source Type: Journal    
DOI: 10.1016/j.celrep.2014.10.023     Document Type: Article

References (34)

1. Anheim M., Elbaz A., Lesage S., Durr A., Condroyer C., Viallet F., Pollak P., Bonaïti B., Bonaïti-Pellié C., Brice A. Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers. Neurology 2012, 78:417-420. French Parkinson Disease Genetic Group.
2. Chamberlain S.J., Chen P.F., Ng K.Y., Bourgois-Rocha F., Lemtiri-Chlieh F., Levine E.S., Lalande M. Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromes. Proc. Natl. Acad. Sci. USA 2010, 107:17668-17673.
3. Cooper O., Seo H., Andrabi S., Guardia-Laguarta C., Graziotto J., Sundberg M., McLean J.R., Carrillo-Reid L., Xie Z., Osborn T., et al. Pharmacological rescue of mitochondrial deficits in iPSC-derived neural cells from patients with familial Parkinson's disease. Sci. Transl. Med. 2012, 4:141ra190.
4. Cullen V., Sardi S.P., Ng J., Xu Y.H., Sun Y., Tomlinson J.J., Kolodziej P., Kahn I., Saftig P., Woulfe J., et al. Acid β-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter α-synuclein processing. Ann. Neurol. 2011, 69:940-953.
5. Devine M.J., Ryten M., Vodicka P., Thomson A.J., Burdon T., Houlden H., Cavaleri F., Nagano M., Drummond N.J., Taanman J.W., et al. Parkinson's disease induced pluripotent stem cells with triplication of the α-synuclein locus. Nat. Commun. 2011, 2:440.
6. Do C.B., Tung J.Y., Dorfman E., Kiefer A.K., Drabant E.M., Francke U., Mountain J.L., Goldman S.M., Tanner C.M., Langston J.W., et al. Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. PLoS Genet. 2011, 7:e1002141.
7. Freundt E.C., Maynard N., Clancy E.K., Roy S., Bousset L., Sourigues Y., Covert M., Melki R., Kirkegaard K., Brahic M. Neuron-to-neuron transmission of α-synuclein fibrils through axonal transport. Ann. Neurol. 2012, 72:517-524.
8. Ganat Y.M., Calder E.L., Kriks S., Nelander J., Tu E.Y., Jia F., Battista D., Harrison N., Parmar M., Tomishima M.J., et al. Identification of embryonic stem cell-derived midbrain dopaminergic neurons for engraftment. J.Clin. Invest. 2012, 122:2928-2939.
9. Gegg M.E., Burke D., Heales S.J., Cooper J.M., Hardy J., Wood N.W., Schapira A.H. Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains. Ann. Neurol. 2012, 72:455-463.
10. Goker-Alpan O., Stubblefield B.K., Giasson B.I., Sidransky E. Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders. Acta Neuropathol. 2010, 120:641-649.
11. Imaizumi Y., Okada Y., Akamatsu W., Koike M., Kuzumaki N., Hayakawa H., Nihira T., Kobayashi T., Ohyama M., Sato S., et al. Mitochondrial dysfunction associated with increased oxidative stress and α-synuclein accumulation in PARK2 iPSC-derived neurons and postmortem brain tissue. Mol. Brain 2012, 5:35.
12. Jiang H., Ren Y., Yuen E.Y., Zhong P., Ghaedi M., Hu Z., Azabdaftari G., Nakaso K., Yan Z., Feng J. Parkin controls dopamine utilization in human midbrain dopaminergic neurons derived from induced pluripotent stem cells. Nat. Commun. 2012, 3:668.
13. Kriks S., Shim J.W., Piao J., Ganat Y.M., Wakeman D.R., Xie Z., Carrillo-Reid L., Auyeung G., Antonacci C., Buch A., et al. Dopamine neurons derived from human ES cells efficiently engraft in animal models of Parkinson's disease. Nature 2011, 480:547-551.
14. Lill C.M., Roehr J.T., McQueen M.B., Kavvoura F.K., Bagade S., Schjeide B.M., Schjeide L.M., Meissner E., Zauft U., Allen N.C., et al. Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. PLoS Genet. 2012, 8:e1002548. 23andMe Genetic Epidemiology of Parkinson's Disease Consortium, International Parkinson's Disease Genomics ConsortiumInternational Parkinson's Disease Genomics Consortium, Parkinson's Disease GWAS ConsortiumParkinson's Disease GWAS Consortium, Wellcome Trust Case Control Consortium 2)Wellcome Trust Case Control Consortium 2).
15. Lundblad M., Decressac M., Mattsson B., Björklund A. Impaired neurotransmission caused by overexpression of α-synuclein in nigral dopamine neurons. Proc. Natl. Acad. Sci. USA 2012, 109:3213-3219.
16. Marder K.S., Tang M.X., Mejia-Santana H., Rosado L., Louis E.D., Comella C.L., Colcher A., Siderowf A.D., Jennings D., Nance M.A., et al. Predictors of parkin mutations in early-onset Parkinson disease: the consortium on risk for early-onset Parkinson disease study. Arch. Neurol. 2010, 67:731-738.
17. Mazzulli J.R., Xu Y.H., Sun Y., Knight A.L., McLean P.J., Caldwell G.A., Sidransky E., Grabowski G.A., Krainc D. Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell 2011, 146:37-52.
18. Nguyen H.N., Byers B., Cord B., Shcheglovitov A., Byrne J., Gujar P., Kee K., Schüle B., Dolmetsch R.E., Langston W., et al. LRRK2 mutant iPSC-derived DA neurons demonstrate increased susceptibility to oxidative stress. Cell Stem Cell 2011, 8:267-280.
19. Olanow C.W., Rascol O., Hauser R., Feigin P.D., Jankovic J., Lang A., Langston W., Melamed E., Poewe W., Stocchi F., Tolosa E. A double-blind, delayed-start trial of rasagiline in Parkinson's disease. N.Engl. J. Med. 2009, 361:1268-1278. ADAGIO Study Investigators.
20. Osellame L.D., Rahim A.A., Hargreaves I.P., Gegg M.E., Richard-Londt A., Brandner S., Waddington S.N., Schapira A.H., Duchen M.R. Mitochondria and quality control defects in a mouse model of Gaucher disease-links to Parkinson's disease. Cell Metab. 2013, 17:941-953.
21. Park J., Lee S.B., Lee S., Kim Y., Song S., Kim S., Bae E., Kim J., Shong M., Kim J.M., Chung J. Mitochondrial dysfunction in Drosophila PINK1 mutants is complemented by parkin. Nature 2006, 441:1157-1161.
22. Pruszak J., Sonntag K.C., Aung M.H., Sanchez-Pernaute R., Isacson O. Markers and methods for cell sorting of human embryonic stem cell-derived neural cell populations. Stem Cells 2007, 25:2257-2268.
23. Reinhardt P., Schmid B., Burbulla L.F., Schöndorf D.C., Wagner L., Glatza M., Höing S., Hargus G., Heck S.A., Dhingra A., et al. Genetic correction of a LRRK2 mutation in human iPSCs links parkinsonian neurodegeneration to ERK-dependent changes in gene expression. Cell Stem Cell 2013, 12:354-367.
24. Ryan S.D., Dolatabadi N., Chan S.F., Zhang X., Akhtar M.W., Parker J., Soldner F., Sunico C.R., Nagar S., Talantova M., et al. Isogenic human iPSC Parkinson's model shows nitrosative stress-induced dysfunction in MEF2-PGC1α transcription. Cell 2013, 155:1351-1364.
25. Salti A., Nat R., Neto S., Puschban Z., Wenning G., Dechant G. Expression of early developmental markers predicts the efficiency of embryonic stem cell differentiation into midbrain dopaminergic neurons. Stem Cells Dev. 2013, 22:397-411.
26. Sánchez-Danés A., Richaud-Patin Y., Carballo-Carbajal I., Jiménez-Delgado S., Caig C., Mora S., Di Guglielmo C., Ezquerra M., Patel B., Giralt A., et al. Disease-specific phenotypes in dopamine neurons from human iPS-based models of genetic and sporadic Parkinson's disease. EMBO Mol. Med. 2012, 4:380-395.
27. Sardi S.P., Clarke J., Kinnecom C., Tamsett T.J., Li L., Stanek L.M., Passini M.A., Grabowski G.A., Schlossmacher M.G., Sidman R.L., et al. CNS expression of glucocerebrosidase corrects alpha-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy. Proc. Natl. Acad. Sci. USA 2011, 108:12101-12106.
28. Sidransky E., Nalls M.A., Aasly J.O., Aharon-Peretz J., Annesi G., Barbosa E.R., Bar-Shira A., Berg D., Bras J., Brice A., et al. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N.Engl. J. Med. 2009, 361:1651-1661.
29. Tanner C.M., Ottman R., Goldman S.M., Ellenberg J., Chan P., Mayeux R., Langston J.W. Parkinson disease in twins: an etiologic study. JAMA 1999, 281:341-346.
30. Wirdefeldt K., Gatz M., Reynolds C.A., Prescott C.A., Pedersen N.L. Heritability of Parkinson disease in Swedish twins: a longitudinal study. Neurobiol. Aging 2011, 32:1923.e1-1923.e8.
31. Wood-Kaczmar A., Gandhi S., Yao Z., Abramov A.Y., Miljan E.A., Keen G., Stanyer L., Hargreaves I., Klupsch K., Deas E., et al. PINK1 is necessary for long term survival and mitochondrial function in human dopaminergic neurons. PLoS ONE 2008, 3:e2455.
32. Yang Y., Gozen O., Vidensky S., Robinson M.B., Rothstein J.D. Epigenetic regulation of neuron-dependent induction of astroglial synaptic protein GLT1. Glia 2010, 58:277-286.
33. Yang Q., Ikemoto K., Nishino S., Yamaki J., Kunii Y., Wada A., Homma Y., Niwa S. DNA methylation of the Monoamine Oxidases A and B genes in postmortem brains of subjects with schizophrenia. Open Journal of Psychiatry 2012, 2:374-383.
34. Yuan S.H., Martin J., Elia J., Flippin J., Paramban R.I., Hefferan M.P., Vidal J.G., Mu Y., Killian R.L., Israel M.A., et al. Cell-surface marker signatures for the isolation of neural stem cells, glia and neurons derived from human pluripotent stem cells. PLoS ONE 2011, 6:e17540.