Abstract
Stem cells, which can self-renew and differentiate into different cell types, have become the keystone of regenerative medicine due to these properties. With the achievement of superior clinical results in the therapeutic approaches of different diseases, the applications of these cells in the treatment of genetic diseases have also come to the fore. Foremost, conventional approaches of stem cells to genetic diseases are the first approaches in this manner, and they have brought safety issues due to immune reactions caused by allogeneic transplantation. To eliminate these safety issues and phenotypic abnormalities caused by genetic defects, firstly, basic genetic engineering practices such as vectors or RNA modulators were combined with stem cell-based therapeutic approaches. However, due to challenges such as immune reactions and inability to target cells effectively in these applications, advanced molecular methods have been adopted in ZFN, TALEN, and CRISPR/Cas genome editing nucleases, which allow modular designs in stem cell-based genetic diseases’ therapeutic approaches. Current studies in genetic diseases are in the direction of creating permanent treatment regimens by genomic manipulation of stem cells with differentiation potential through genome editing tools. In this chapter, the stem cell-based therapeutic approaches of various vital genetic diseases were addressed wide range from conventional applications to genome editing tools.
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Abbreviations
- AAV9:
-
Adeno-associated virus serotype-9
- ALS:
-
Amyotrophic lateral sclerosis
- ASCs:
-
Adult stem cells
- BDNF:
-
Brain-derived neurotrophic factor
- BM-MSCs:
-
Bone marrow-derived MSCs
- Cas9:
-
Associated protein 9
- CF:
-
Cystic fibrosis
- CFTR:
-
Cystic fibrous transmembrane conductivity regulator
- CFU-F:
-
Colony-forming unit-fibroblast
- CFZF:
-
CFTR Zinc-Finger Protein Fusion
- CK:
-
Creatine kinase
- CRISPR:
-
Clustered regularly interspaced short palindromic repeat
- DMD:
-
Duchenne muscular dystrophy
- DPR:
-
Dipeptide repeat
- DSB:
-
Double-strand break
- DUX4:
-
Double homeobox protein 4
- ECFCs:
-
Endothelial colony-forming cells
- ESCs:
-
Embryonic stem cells
- FBN1:
-
Fibrillin-1
- FSHD:
-
Facioscapulohumeral muscular dystrophy
- FUS:
-
Fused in sarcoma/translocated in liposarcoma
- FVIII:
-
Factor VIII
- HA:
-
Hemophilia A
- HBB:
-
Hemoglobin subunit β
- HbF:
-
Hemoglobin F
- HBs:
-
Mutant hemoglobin
- HD:
-
Huntington’s disease
- HDR:
-
Homology-directed repair
- HGPRT:
-
Hypoxanthine-guanine phosphoribosyltransferase
- HLA:
-
Human leukocyte antigen
- HSCs:
-
Hematopoietic stem cells
- HTT:
-
Huntingtin
- HuBECs:
-
Human bronchial epithelial cells
- iPSCs:
-
Induced pluripotent stem cells
- ISCT:
-
International Society for Cell & Gene Therapy
- LCR:
-
Locus control region
- LGMD:
-
Limb-girdle muscular dystrophy
- LNT:
-
Lesch-Nyhan disease
- MMR:
-
Mismatch repair
- MSCs:
-
Mesenchymal stem cells
- MuSCs:
-
Muscle stem cells
- MyoD1:
-
Myogenic differentiation 1
- NHEJ:
-
Non-homologous end joining
- NPCs:
-
Neural progenitor cells
- PAM:
-
Protospacer adjacent motif
- PAX7:
-
Paired box 7
- PBMCs:
-
Peripheral blood mononuclear cells
- Pitx2c:
-
c-Isoform of the pituitary homeobox 2 transcription factor
- P-MSCs:
-
Placenta-derived MSCs
- PNA:
-
Peptide nucleic acid
- RNAi:
-
RNA interference
- RVD:
-
Repeat variable di-residues
- SCD:
-
Sickle cell disease
- SCNT:
-
Somatic cell nuclear transfer
- sgRNA:
-
Single-guide RNA
- shRNA:
-
Short hairpin RNA
- SMA:
-
Spinal muscular atrophy
- SMN:
-
Survival motor neuron
- SMN-FL:
-
Survival motor neuron-full length
- SMN-Δ7:
-
Survival motor neuron-lacking exon 7
- SREs:
-
Splicing-regulatory elements
- ssODNs:
-
Single-stranded oligodeoxynucleotides
- TA:
-
Tibialis anterior
- TALENs :
-
Transcription activator-like effector nucleases
- TALEs:
-
Transcription activator-like effectors
- X-CGD:
-
X-linked chronic granulomatous disease
- ZFNs:
-
Zinc-finger nucleases
- μDys :
-
Microdystrophin
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Aslan, A., Yuka, S.A. (2023). Stem Cell-Based Therapeutic Approaches in Genetic Diseases. In: Turksen, K. (eds) Cell Biology and Translational Medicine, Volume 20. Advances in Experimental Medicine and Biology(), vol 1436. Springer, Cham. https://doi.org/10.1007/5584_2023_761
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DOI: https://doi.org/10.1007/5584_2023_761
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