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Induced Pluripotency for the Study of Disease Mechanisms and Cell Therapy

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Rare Diseases

Part of the book series: Advances in Predictive, Preventive and Personalised Medicine ((APPPM,volume 6))

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Abstract

Pluripotent cells including induced pluripotent stem (iPS) cells are regarded as a powerful source for cell therapy, because these cells function both by direct cell replacement and also by paracrine effects. Advantage of iPS cells is also their unlimited availability. In this chapter we characterize the pluripotent state of cells starting from embryonic stem (ES) cells and comparing them with iPS cells. We also describe different ways of using iPS cells: replacement of damaged cells and cell replacement in combination with gene therapy. We summarize recent achievements in these areas and conclude that although the developments are highly promising, there are still potential risks of adverse effects, which need more fundamental research before iPS cell therapy will become a routine clinical practice. One more promising area of iPS cell technology is derivation of these cells from patients with genetic or other disorders and use of them as a “human cell model of human disease” to understand the mechanisms of the disease and to possibly find new chemicals to correct the defective pathways. This approach has already led to discoveries of new routes to medical treatments and potentially will form a new and efficient basis for personalized therapy of patients.

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Abbreviations

6-OHDA:

6-hydroxydopamine

ADA-SCID:

Adenosine deaminase deficiency-related severe combined immunodeficiency

ALS:

Amyotrophic lateral sclerosis

BMD:

Becker muscular dystrophy

DA neurons:

Dopaminergic neurons

DMD:

Duchenne muscular dystrophy

DS:

Down syndrome

ES cells:

Embryonic stem cells

FA:

Fanconi anemia

FACS:

Fluorescence-activated cell sorting

FD:

Familial dysautonomia

FDA:

Food and Drug Administration

FXS:

Fragile X syndrome

GABA:

Gamma aminobutyric acid

GD:

Gaucher disease

HD:

Huntington disease

ICM:

Inner Cell Mass

iPS cells:

Induced pluripotent stem cells

JDM:

Juvenile-onset type 1 diabetes mellitus mRNA – micro RNA

NCAM:

Neural cell adhesion molecule

NT:

Nuclear transfer

PD:

Parkinson’s Disease

PGD:

Preimplantation genetic diagnosis

ROS:

Reactive Oxygen Species

RTT:

Rett syndrome

SBDS:

Shwachman-Bodian-Diamond syndrome

SCNT:

Somatic Cell Nuclear Transfer

SMA:

Spinal muscular atrophy

TALEN:

Transcription activator–like effector nuclease

T1D:

Type 1 diabetes

X-CGD:

X-linked chronic granulomatous disease

ZFN:

Zinc-finger nucleases

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Authors and Affiliations

  1. Institute of Molecular and Cell Biology, University of Tartu, 23 Riia str., 51010, Tartu, Estonia

    Toivo Maimets

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  1. Toivo Maimets
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Correspondence to Toivo Maimets .

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  1. Faculty of Medicine, Medical Biology, Hacettepe University, Ankara, Turkey

    Meral Özgüç

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Maimets, T. (2015). Induced Pluripotency for the Study of Disease Mechanisms and Cell Therapy. In: Özgüç, M. (eds) Rare Diseases. Advances in Predictive, Preventive and Personalised Medicine, vol 6. Springer, Dordrecht. https://doi.org/10.1007/978-94-017-9214-1_10

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  • DOI: https://doi.org/10.1007/978-94-017-9214-1_10

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