Literature DB >> 34397590

Modeling genetic platelet disorders with human pluripotent stem cells: mega-progress but wanting more on our plate(let).

Catriana C Nations1,2, Giulia Pavani2, Deborah L French2,3, Paul Gadue2,3.   

Abstract

PURPOSE OF REVIEW: Megakaryocytes are rare hematopoietic cells that play an instrumental role in hemostasis, and other important biological processes such as immunity and wound healing. With the advent of cell reprogramming technologies and advances in differentiation protocols, it is now possible to obtain megakaryocytes from any pluripotent stem cell (PSC) via hematopoietic induction. Here, we review recent advances in PSC-derived megakaryocyte (iMK) technology, focusing on platform validation, disease modeling and current limitations. RECENT
FINDINGS: A comprehensive study confirmed that iMK can recapitulate many transcriptional and functional aspects of megakaryocyte and platelet biology, including variables associated with complex genetic traits such as sex and race. These findings were corroborated by several pathological models in which iMKs revealed molecular mechanisms behind inherited platelet disorders and assessed the efficacy of novel pharmacological interventions. However, current differentiation protocols generate primarily embryonic iMK, limiting the clinical and translational potential of this system.
SUMMARY: iMK are strong candidates to model pathologic mutations involved in platelet defects and develop innovative therapeutic strategies. Future efforts on generating definitive hematopoietic progenitors would improve current platelet generation protocols and expand our capacity to model neonatal and adult megakaryocyte disorders.
Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.

Entities:  

Mesh:

Year:  2021        PMID: 34397590      PMCID: PMC8371829          DOI: 10.1097/MOH.0000000000000671

Source DB:  PubMed          Journal:  Curr Opin Hematol        ISSN: 1065-6251            Impact factor:   3.218


  67 in total

Review 1.  A view of human haematopoietic development from the Petri dish.

Authors:  Andrea Ditadi; Christopher M Sturgeon; Gordon Keller
Journal:  Nat Rev Mol Cell Biol       Date:  2016-11-23       Impact factor: 94.444

2.  Targeted correction of RUNX1 mutation in FPD patient-specific induced pluripotent stem cells rescues megakaryopoietic defects.

Authors:  Jon P Connelly; Erika M Kwon; Yongxing Gao; Niraj S Trivedi; Abdel G Elkahloun; Marshall S Horwitz; Linzhao Cheng; P Paul Liu
Journal:  Blood       Date:  2014-09-18       Impact factor: 22.113

Review 3.  Embryonic development of the human hematopoietic system.

Authors:  Manuela Tavian; Bruno Péault
Journal:  Int J Dev Biol       Date:  2005       Impact factor: 2.203

4.  Natural history of transient myeloproliferative disorder clinically diagnosed in Down syndrome neonates: a report from the Children's Oncology Group Study A2971.

Authors:  Alan S Gamis; Todd A Alonzo; Robert B Gerbing; Joanne M Hilden; April D Sorrell; Mukta Sharma; Thomas W Loew; Robert J Arceci; Dorothy Barnard; John Doyle; Gita Massey; John Perentesis; Yaddanapudi Ravindranath; Jeffrey Taub; Franklin O Smith
Journal:  Blood       Date:  2011-08-17       Impact factor: 22.113

5.  Distinct Sources of Hematopoietic Progenitors Emerge before HSCs and Provide Functional Blood Cells in the Mammalian Embryo.

Authors:  Kathleen E McGrath; Jenna M Frame; Katherine H Fegan; James R Bowen; Simon J Conway; Seana C Catherman; Paul D Kingsley; Anne D Koniski; James Palis
Journal:  Cell Rep       Date:  2015-06-18       Impact factor: 9.423

Review 6.  The genetics of platelet count and volume in humans.

Authors:  John D Eicher; Guillaume Lettre; Andrew D Johnson
Journal:  Platelets       Date:  2017-06-26       Impact factor: 3.862

7.  Impaired hematopoietic differentiation of RUNX1-mutated induced pluripotent stem cells derived from FPD/AML patients.

Authors:  M Sakurai; H Kunimoto; N Watanabe; Y Fukuchi; S Yuasa; S Yamazaki; T Nishimura; K Sadahira; K Fukuda; H Okano; H Nakauchi; Y Morita; I Matsumura; K Kudo; E Ito; Y Ebihara; K Tsuji; Y Harada; H Harada; S Okamoto; H Nakajima
Journal:  Leukemia       Date:  2014-04-15       Impact factor: 11.528

8.  Decoding human fetal liver haematopoiesis.

Authors:  Dorin-Mirel Popescu; Rachel A Botting; Emily Stephenson; Kile Green; Simone Webb; Laura Jardine; Emily F Calderbank; Krzysztof Polanski; Issac Goh; Mirjana Efremova; Meghan Acres; Daniel Maunder; Peter Vegh; Yorick Gitton; Jong-Eun Park; Roser Vento-Tormo; Zhichao Miao; David Dixon; Rachel Rowell; David McDonald; James Fletcher; Elizabeth Poyner; Gary Reynolds; Michael Mather; Corina Moldovan; Lira Mamanova; Frankie Greig; Matthew D Young; Kerstin B Meyer; Steven Lisgo; Jaume Bacardit; Andrew Fuller; Ben Millar; Barbara Innes; Susan Lindsay; Michael J T Stubbington; Monika S Kowalczyk; Bo Li; Orr Ashenberg; Marcin Tabaka; Danielle Dionne; Timothy L Tickle; Michal Slyper; Orit Rozenblatt-Rosen; Andrew Filby; Peter Carey; Alexandra-Chloé Villani; Anindita Roy; Aviv Regev; Alain Chédotal; Irene Roberts; Berthold Göttgens; Sam Behjati; Elisa Laurenti; Sarah A Teichmann; Muzlifah Haniffa
Journal:  Nature       Date:  2019-10-09       Impact factor: 69.504

9.  Down syndrome-related transient abnormal myelopoiesis is attributed to a specific erythro-megakaryocytic subpopulation with GATA1 mutation.

Authors:  Yoko Nishinaka-Arai; Akira Niwa; Shiori Matsuo; Yasuhiro Kazuki; Yuwna Yakura; Takehiko Hiroma; Tsutomu Toki; Tetsushi Sakuma; Takashi Yamamoto; Etsuro Ito; Mitsuo Oshimura; Tatsutoshi Nakahata; Megumu K Saito
Journal:  Haematologica       Date:  2021-02-01       Impact factor: 9.941

10.  Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.

Authors:  Cornelis A Albers; Dirk S Paul; Harald Schulze; Kathleen Freson; Jonathan C Stephens; Peter A Smethurst; Jennifer D Jolley; Ana Cvejic; Myrto Kostadima; Paul Bertone; Martijn H Breuning; Najet Debili; Panos Deloukas; Rémi Favier; Janine Fiedler; Catherine M Hobbs; Ni Huang; Matthew E Hurles; Graham Kiddle; Ingrid Krapels; Paquita Nurden; Claudia A L Ruivenkamp; Jennifer G Sambrook; Kenneth Smith; Derek L Stemple; Gabriele Strauss; Chantal Thys; Chris van Geet; Ruth Newbury-Ecob; Willem H Ouwehand; Cedric Ghevaert
Journal:  Nat Genet       Date:  2012-02-26       Impact factor: 38.330

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