Stem cells and genetic diseases
In this review, we have discussed a role of stem cells in the treatment of genetic diseases including cochlear and retinal regeneration. The most perceptive use of stem cells at the genetic diseases is cellular repair of tissues affected by a genetic mutation when stem cells without such mutation a...
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Інститут молекулярної біології і генетики НАН України
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irk-123456789-1568722020-11-19T15:09:05Z Stem cells and genetic diseases Shahid, S. Irshad, S. Reviews In this review, we have discussed a role of stem cells in the treatment of genetic diseases including cochlear and retinal regeneration. The most perceptive use of stem cells at the genetic diseases is cellular repair of tissues affected by a genetic mutation when stem cells without such mutation are transplanted to restore normal tissue function. Keywords: stem cell, genetic disease, cochlea, retina, regeneration. Обговорюється роль стовбурових клітин у лікуванні генетичних захворювань, таких як випадіння волосся і регенерація сітківки. При корекції генетичних захворювань, спричинених наявністю певних мутацій, найперспективнішим вважають пересадження стовбурових клітин без таких мутацій для подальшої клітинної регенерації і відновлення нормальних функцій тканин. Ключові слова: стовбурові клітини, генетичні захворювання, завитка, сітківка ока, регенерація. Обсуждается роль стволовых клеток в лечении генетических заболеваний, таких как выпадение волос и регенерация сетчатки. При коррекции генетических заболеваний, вызванных наличием определенных мутаций, наиболее перспективным считают пересадку стволовых клеток без таких мутаций для последующей клеточной регенерации и восстановления нормальных функций тканей. Ключевые слова: стволовые клетки, генетические заболевания, улитка, сетчатка глаза, регенерация. 2012 Article Stem cells and genetic diseases / S. Shahid, S. Irshad // Вiopolymers and Cell. — 2012. — Т. 28, № 5. — С. 329-337. — Бібліогр.: 101 назв. — англ. 0233-7657 DOI: http://dx.doi.org/10.7124/bc.00006D http://dspace.nbuv.gov.ua/handle/123456789/156872 576.38 + 575.16 en Вiopolymers and Cell Інститут молекулярної біології і генетики НАН України |
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Reviews Reviews Shahid, S. Irshad, S. Stem cells and genetic diseases Вiopolymers and Cell |
| description |
In this review, we have discussed a role of stem cells in the treatment of genetic diseases including cochlear
and retinal regeneration. The most perceptive use of stem cells at the genetic diseases is cellular repair of tissues affected by a genetic mutation when stem cells without such mutation are transplanted to restore normal
tissue function.
Keywords: stem cell, genetic disease, cochlea, retina, regeneration. |
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Article |
| author |
Shahid, S. Irshad, S. |
| author_facet |
Shahid, S. Irshad, S. |
| author_sort |
Shahid, S. |
| title |
Stem cells and genetic diseases |
| title_short |
Stem cells and genetic diseases |
| title_full |
Stem cells and genetic diseases |
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Stem cells and genetic diseases |
| title_full_unstemmed |
Stem cells and genetic diseases |
| title_sort |
stem cells and genetic diseases |
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Інститут молекулярної біології і генетики НАН України |
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2012 |
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Reviews |
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http://dspace.nbuv.gov.ua/handle/123456789/156872 |
| citation_txt |
Stem cells and genetic diseases / S. Shahid, S. Irshad // Вiopolymers and Cell. — 2012. — Т. 28, № 5. — С. 329-337. — Бібліогр.: 101 назв. — англ. |
| series |
Вiopolymers and Cell |
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AT shahids stemcellsandgeneticdiseases AT irshads stemcellsandgeneticdiseases |
| first_indexed |
2025-07-14T09:11:14Z |
| last_indexed |
2025-07-14T09:11:14Z |
| _version_ |
1837612951484235776 |
| fulltext |
REVIEWS
UDC 576.38 + 575.16
Stem cells and genetic diseases
S. Shahid, S. Irshad
Institute of Biochemistry and Biotechnology, University of the Punjab
Lahore, Pakistan
saba.ibb@pu.edu.pk
In this review, we have discussed a role of stem cells in the treatment of genetic diseases including cochlear
and retinal regeneration. The most perceptive use of stem cells at the genetic diseases is cellular repair of tis-
sues affected by a genetic mutation when stem cells without such mutation are transplanted to restore normal
tissue function.
Keywords: stem cell, genetic disease, cochlea, retina, regeneration.
Introduction. Stem cells are characterized as undiffe-
rentiated [1, 2], toti-, multi- or pluripotent [3], and self-
renewing cells [4] that have the capability to differen-
tiate into any cell type of the body given suitable intra-
cellular gene regulation [5], intercellular communi-
cation [6] and environmental clues. These cells hold the
promise of ultimate replacement of the lost cells and
possibly organs [7]. There are three types of stem cells:
(1) embryonic stem cells, (2) adult stem cells, (3) in-
duced pluripotent stem cells (iPSCs); each with its own
potential and limitations [8]. Stem cell therapy is based
on the concept that the undifferentiated stem cell has
the potential to respond and react to surrounding cell
signals and differentiate into the appropriate cell type
associated with the signal [9] to restore normal tissue
function after transplantation [10].
Potential of stem cells to cure genetic diseases.
Pluripotent stem cells possess a unique property of dif-
ferentiating into all other cell types of the human body
[11]. Human embryonic stem cells (HESCs) carrying
specific mutations provide an important tool for investi-
gating genetic diseases in humans [12]. HESCs can be
used for better understanding the fundamental develop-
mental processes and can, therefore, serve for studying
genetic disorders for which no good research model
exists. Preimplantation genetic diagnosis of in vitro de-
rived embryos results in affected-spare blastocysts with
specific known inherited mutations. These affected
blastocysts can be used for the derivation of disease-
bearing HESCs, which would serve for studying the
molecular and pathophysiological mechanisms under-
lying the genetic disease for which they were diagno-
sed [13]. The field of stem-cell biology has been pro-
jected forward by the startling development of repro-
gramming technology. The capability to restore pluri-
potency to somatic cells through the ectopic co-expres-
sion of reprogramming factors has established power-
ful new prospects for modeling human diseases and of-
fers hope for specified regenerative cell therapies [14].
The reprogramming of human somatic cells make use
of easily accessible tissue, such as blood or skin, to pro-
duce embryonic-like induced pluripotent stem cells
[15]. This procedure utilizes retroviruses/adenovirus/
lentiviruses/plasmids to incorporate candidate genes
into somatic cells isolated from any part of the human
body [11]. In 2007, germline transmission was achie-
ved with mouse iPSCs [16–18], and iPSCs were ge-
nerated from human fibroblasts [19–21]. Then iPSCs
were generated from patients with thalassemia [22] and
a variety of genetic diseases with either Mendelian or
complex inheritance [23]. It is also possible to develop
disease-specific iPSCs which are most likely to revolu-
329
ISSN 0233–7657. Biopolymers and Cell. 2012. Vol. 28. N 5. P. 329–337
� Institute of Molecular Biology and Genetics, NAS of Ukraine, 2012
330
SHAHID S., IRSHAD S.
tionize research regarding the pathophysiology of most
devastating diseases [11].
Methods for genetic repair. There are several me-
thods for genetic repair of genetic diseases that include
zinc finger [24] and transcription activator-like effector
(TALE) nuclease method [25], exon skipping tech-
nology [26], RNA interference (RNAi) [27] and gene
transfer method [28]. However, already damaged cells
should be replaced by new normal cells which can be
differentiated from iPSCs. Those methods may be used
to repair the genetic disease-harboring cells that may be
done either in the somatic cells before induction to plu-
ripotency [29], or the somatic cell derived iPSCs [30].
In genetic diseases, where the cells are already dama-
ged, they can be replaced by new normal cells, which
can be differentiated from iPSCs. To avoid immune re-
jection, iPSCs from the patient’s own cell can be de-
veloped. However, iPSCs from the patient’s own cell
harbors the same genetic aberration. Therefore, genetic
repair should be done before differentiating the iPSCs
into required cells [31].
Role of stem cells for regenerating cochlear hair
cells. Hearing loss, caused by irreversible loss of coch-
lear sensory hair cells [32], affects millions of patients
worldwide [33]. Approximately 50 % of the elderly
people suffer from some degree of hearing loss influen-
cing their social interactions [7]. In contrast to many
non-mammalian vertebrates [34], humans and other
mammals cannot regenerate hair cells. Therefore, coch-
lear transplants represented a technological break-
through [35], however they cannot match the innate ca-
pability of the fully functional organ of Corti to distin-
guish sound as a continuum of frequencies. The current
development of cellular and molecular therapy with
multipotent or pluripotent stem cells puts forward the
new solutions for hearing loss to attain natural hearing
by restoring the lost hair cells [36, 37]. Stem cells are be-
neficial for exploring the molecular pathways that trig-
ger cochlear regeneration [38]. Past research has detec-
ted several sources of stem cells in human ears. For
example, apparent neuronal precursors have been iden-
tified from human biopsies of spiral ganglion explants
[39]. Other sources of apparent stem cells such as the
organ of Corti, stria vascularis [40] and the vestibular
organs, even from postmortem specimens have also
been identified [41]. Stem cells originated from several
sources such as bone marrow [42], different neural
tissues [43], or neurosensory precursors [44] have been
examined for their capability to develop into hair-cell-
like cells and to survive when injected into the ear, pro-
ducing an extensive literature demonstrating how best
to implant cells for neuronal replacement [36, 45, 46],
or sensory implants [47].
Embryonic stem cells for regenerating cochlear
hair cells. Embryonic Stem Cells (ESCs) are pluripo-
tent and capable of giving rise to cells from any of the
three germ layers. The ESCs were differentiated toward
the ectodermal lineage and the generated progenitor
cells had the capability to develop into sensory hair
cells in vitro [48, 49]. ESCs are isolated from the inner
cell mass of early embryos that possess three general
properties that make them suitable for cell replacement
therapy. [43]. ESCs have been reported to produce sen-
sory auditory neurons and neural progenitors with the
potential to restore auditory function by generating ner-
ve connections to hair cells [45, 50]. ESCs come from
the inner cell mass of the pre-implanted blastocyst and
can be differentiated into virtually any cell type as they
are totipotent and have the ability to regenerate or self-
renewal that can be attributed to the expression of speci-
fic genes such as OCT4, SOX2, and NANOG [51]. De-
regulation of any or all these genes causes ESCs to lose
differentiation and pluripotency. Notably, ESCs are
subjected to immune responses that might eventually
result in the rejection of derivative cells by the host.
Even though immunosuppressive therapy can counter-
act ESCs rejection, it also causes the decreased ability
to fight against opportunistic infections and other side-
effects such as diabetes, osteoporosis, hypertension and
kidney failure [52]. ESCs have high migration rates
and survival capacity when implanted into the cochlea
[53]. They migrated onto auditory neurons and showed
neuronal differentiation [54]. Although they can be dif-
ferentiated into a number of cell lineages, they tend to
differentiate more toward the mesoderm and can be
used to replace degenerated cochlear fibrocytes [55].
However, ESCs revealed low integration into endoge-
nous tissue and failed to differentiate completely at the
implantation site [54]. There is also the risk of tumor
formation and the risk of transmitting infections with
ESCs because they use animal products during the cul-
turing process. ESCs used in the treatment of inner ear
STEM CELLS AND GENETIC DISEASES
can make use of cloning to prevent graft-vs-host disea-
ses [56, 57].
Adult stem cells for regenerating cochlear hair cells.
An alternative to ESCs are Adult Stem (AS) cells which
are pluripotent [58]. AS cells have been detected in se-
veral organs including the ear [37] and can differentiate
into a variety of other cell types. However, it is difficult
to retrieve the ear stem cells without destroying normal
function of the organ, so they are not suitable candidate
for human therapies. Furthermore, isogenic AS cells
have the potential to escape immune rejection because
they are isolated from the same individual that will later
receive derivative cells for therapy [7]. AS cells from
many tissues are now being used to find cures for nu-
merous diseases. These cells are not related to any ethi-
cal issues and can move into clinical trials involving
autologous transplantation therapies. Bone marrow-
derived stem cells have shown the most promising re-
sults to cure inner ear disorders [59]. Replacement the-
rapies with bone marrow-derived hematopoietic stem
cells (BMHSCs) in mice suggested the possibility to dif-
ferentiate into fibrocytes and mesenchymal cells in the
adult inner ear. BMHSCs showed their potential to re-
duce cochlear injury by replacing fibrocytes and mesen-
chymal cells in the inner ear [60]. Furthermore, the dif-
ferentiated cells displayed the morphological characte-
ristics of hair cell stereociliary bundles. The investiga-
tions have shown that bone marrow mesenchymal stem
cells, stimulated in the presence of growth factors, were
capable to form neuronal progenitor cells, and after being
transfected with the Math1 gene, were able to differen-
tiate into the inner ear sensory-like cells [42]. Bone mar-
row mesenchymal stem cells have the potential to diffe-
rentiate into the auditory neurons both in vivo and in
vitro [56], establishing that a wide variety of inner ear
cell types can be generated from stem cells. AS cells iso-
lated from the macular organs of mouse have been
shown to differentiate into the hair cell-like cells in the
presence of extrinsic factors [61]. AS cells also have
the potential to deliver gene and therapeutic molecules
to other parts of the inner ear. For example, a protein
present in cochlear gap junctions and supporting cells,
Connexin 26, was expressed when bone marrow stro-
mal cells were transplanted into the perilymphatic spa-
ce of the mouse cochlea [62]. AS cells isolated from ol-
factory neuroepithelium expressed hair cell markers and
bear a phenotypic resemblance to hair cells when co-
cultured with cochlear cell [61]. These studies suggest
that AS cells provide a significant potential treatment
for hearing loss.
Induced pluripotent stem cells for regenerating coch-
lear hair cells. The discovery of iPSCs established a
new dimension to stem cell research. iPSCs are produ-
ced from fibroblasts [18], AS cells and other somatic
cells, which are reprogrammed to express specific ge-
nes and retain the characteristic properties of ESCs [63].
A two-step approach has been proposed using a first set
of transcription factors to increase the generation of
iPSCs and a second set of factors to initiate the hair cell
differentiation [7]. It has been demonstrated that hu-
man neural stem cells can be directly reprogrammed to
iPSCs by just expressing Oct4 [64]. Mostly, the re-
search with iPSCs in hair cell regeneration is of murine
origin. A recent study has shown the generation of
iPSCs from murine embryonic fibroblasts which were
transduced with retroviruses to express Oct4, c-Myc,
Sox2 and Klf4. The iPSCs generated were cultured to
produce otic progenitors. The generated otic progenitor
cells differentiated into hair cell-like cells expressing
hair cell markers. The differentiated cells, when co-cultu-
red with fibroblast-like cells from embryonic chicken
utricles, produced hair bundle-like projections, revea-
led transduction currents and showed response to me-
chanical stimulation [48].
The use of iPSCs to restore auditory neuronal gang-
lions was investigated. In vitro neuronal differentiation
of iPSCs was induced by exposing them to stromal cell-
derived inducing activity (SDIA). SDIA is a neural in-
ducing activity established in stromal cells when they
produce inhibitory and inducing factors, simultane-
ously. The differentiated cells were then transplanted
into the cochlea of mice. iPSCs cell-derived neurons
projecting toward the cochlear hair cells were observed
after transplantation [65]. iPSCs provided the oppor-
tunity of generating and using patient-specific stem
cells in vivo without immune rejection and there are no
controversial ethical issues associated with their usage
as with human ESCs [7]. Their undifferentiated state
permits them to migrate to regions surrounding the
cochlea. However, one of the key concerns with iPSCs
is the time required to generate the individual cell lines
[66].
331
Role of stem cells in retinal regeneration. Reti-
nal diseases are among the leading causes of irrever-
sible visual impairment and blindness [67], affecting
over a hundred million individuals worldwide. The reti-
na consists of complex neural circuit that transduces
the light into the electrical signals which are then sent
through the optic nerve to the higher centers in the brain
for further processing, necessary for perception. Reti-
nal diseases are characterized by progressive degenera-
tion of retina due to malfunctioning of one or more ty-
pes of the cells involved in visual function, ultimately
resulting in loss of vision [68]. In the last decade, there
has been a dramatic increase in the number of genes im-
plicated in inherited retinal disease [69]. Among the re-
tinal degenerative diseases, the age-related macular de-
generation (AMD) is the leading cause of permanent
blindness in the elderly, especially in developed count-
ries. The inherited retinal degeneration is a main reason
for visual impairment in the juvenile-to-young adult po-
pulation. Particularly, the retinitis pigmentosa (RP) is a
leading cause of visual impairment or inherited blind-
ness. Related diseases, including a genetic condition cal-
led Stargardt’s macular dystrophy, affect young peop-
le, as well in which fatty deposits build up behind the
retina, causing its degeneration and resulting in vision
loss [8]. The retina is an excellent model to examine
stem cell transplantation into the central nervous system
(CNS). The retina develops from the same embryonic
origin as the brain, but it is more easily accessible than
other parts of the CNS [68]. Scientists are struggling for
establishing a challenging treatment for both macular
degeneration and macular dystrophy. They are injecting
replacement cells into the back of the eye for restoration
of the retina. The company running the trials, Advanced
Cell Technology, makes the replacement eye cells from
HESCs [8]. It is clear that several stem cells retain inhe-
rent neuroprotective properties when transplanted into
the injured CNS. Stem cells, particularly the somatic
neural stem cells and mesenchymal stem cells (MSCs),
have been reported to provoke neuroprotective proper-
ties via the natural secretion of high levels of neurotro-
phic factors [70] and/or inflammatory modulators [71].
Additionally, stem cell transplantation has been used as
a vehicle for selective neurotrophic factor delivery,
using a variety of cells including the stem cells geneti-
cally modified to hyper secretes neurotrophins [72]. Wi-
thin the CNS, neuroprotective stem cell therapies are li-
kely to be translated to clinical treatments more rapidly
than neuroreplacement therapies given that they entail
only that transplanted cells which survive in vivo and
continue to provide support to the host neurons without
noteworthy adverse effects [73]. Clinical trials are in
the early stages, and data on safety and efficacy are wi-
dely predictable. The encouraging results from these
stem cell-based clinical studies would radically alter
the way that blinding di sorders are come up to the cli-
nics [74]. In 2010, the Food and Drug Administration
(FDA) approved a phase I/II clinical trial HESC-de-
rived retinal pigment epithelium (RPE) cells for the treat-
ment of dry AMD. Despite the possibility of curing the
degenerative process [75], there are still many obstac-
les before stem cell technology can be applied in daily
practice [76]. The success of stem cell transplantation
is largely dependent upon the ability of donor cells mig-
ration to the required site, survival after transplan-
tation, and differentiation into retinal cells for restoring
retinal function. Studies have shown that several cell po-
pulations may be regarded as potential sources for reti-
nal regeneration. These include embryonic stem cells,
adult stem cells and induced pluripotent stem cells [76].
Embryonic-stem-cell-derived retinal regeneration.
ESCs provide potentially unlimited sources for the ge-
neration of retinal cells. In vitro differentiation of ESCs
into functional retinal cell types is attainable by defined
step-wise protocols [77–80]. ESCs could be induced to
differentiate into eye-like structures that comprised cells
with crystalline lens properties, neural retina, and RPE.
Furthermore, it has been found that cells from these eye-
like structures could be further differentiated into retinal
ganglion cells (RGCs) when transplanted into the vitre-
ous of an injured adult mouse retina [81]. The success
of defined differentiation of HESC-derived RPE cells
(HESC-RPE) has been reported [82]. Following trans-
plantation in animal models, vision restoration has be-
en reported and no tumor formation was observed [80].
Transplantation of photoreceptors with or without RPE
cells derived from these sources provides huge poten-
tial for treating retinal degenerations [76]. Eiraku et al.
[83] reported the dynamic, autonomous development
of the retinal primordium (optic cup) from a three-di-
mensional culture of mouse ESC aggregates. Aftab et
al. have described that donor tissues taken from 16
th to
332
SHAHID S., IRSHAD S.
18th week of gestation period show the longest in-vitro
survival time, and the highest number of cells. After
replacement, these cells were integrated into the retina
of the recipient, and differentiated into rhodopsin posi-
tive cells, hence, favored the potential of human retinal
progenitor cell transplantation for degenerative disea-
ses [84]. Lamba et al. demonstrated that the human emb-
ryonic stem cell-derived photoreceptors could integrate
and enhance visual function when transplanted into
adult blind mice, revealing the capability of using in vit-
ro-derived human photoreceptors for vision restoration
[85]. The putative RPE cells derived from HESCs dis-
played morphological characteristics of the human RPE
cells and expressed molecular markers. The transplanted
RPE cells derived from HESCs in the defined culture
condition successfully survived and migrated within
subretinal space of rat retinal degeneration model, thus
support the feasibility of the HESCs derived RPE cells
for cell-based retinal regenerative therapy [86]. Never-
theless, controversial issues still exist, ethical concerns
and immune rejection risk have restricted the HESC-
based therapy in clinics and the supply of such cells is
limited [84].
Adult stem cells derived retinal regeneration. Reti-
nal stem cells (RSCs) are present in the ciliary margin
of the adult human eye and can give rise to all retinal cell
types [87]. In 2006, it was reported that the degenera-
ting retina was receptive to new cellular input and post-
mitotic photoreceptors, rather than immature progeni-
tor cells [88]. It was shown that a single pigmented ci-
liary epithelium (CE) cell of mouse retina could proli-
ferate clonally in vitro and form sphere colonies. These
cells have the capability to be induced into retinal-spe-
cific cell types, including Muller glial cells, bipolar neu-
rons and rod photoreceptors [89]. Later, similar multi-
potent retinal stem cells were identified in other mam-
mals-like pigs and humans [90]. Moreover, it was found
that the expansion of CE-derived cells rapidly led to the
loss of retinal progenitor cell markers and consequently
reduced the potential of photoreceptor differentiation
[91]. AS cells, that have been reported to be capable of
inducing retinal regeneration, include hematopoietic
stem cells (hSCs), neural progenitor cells (NPCs) [92]
and MSCs [93]. Neural progenitors have been demon-
strated to promote the recovery from retinal injury and to
express retinal phenotypic neurochemical markers.
However, it has been shown that NPCs have scarce abi-
lity to differentiate into mature retinal neurons. Also,
further applications of NPCs are limited due to the shor-
tage of adult NPCs sources. Autologous transplantation
using MSCs or hSCs has the advantage of reducing the
rejection risk and avoiding ethical issues. Anatomical in-
tegration has been reported by intravitreal injection of
hSCs using retinal ischemia-reperfusion models [94]
and MSCs. The studies on animals have demonstrated
that MSCs are able to integrate into the nerve fiber lay-
ers and ganglion cells [95]. The functional retinal diffe-
rentiation from MSCs or hSCs is still highly debatable.
It has been demonstrated that improvements with the
use of adult MSCs or hSCs may actually be attributed
to the anti-inflammatory cytokines and neurotrophic
factors, instead of direct functional retinal differen-
tiation [96]. Adult retina-specific stem cells discovery
pursued different research laboratories to expand num-
bers of such adult retina-specific stem cells and optimi-
ze sub-retinal differentiation. However, there are some
obstacles to the use of such cells. Firstly, the percenta-
ge of actively proliferating cells in the CE is very low
(< 2 %). Secondly, self-renewal and proliferation rates
would decrease gradually with subsequent passages
[97]. Thirdly, there may be a risk of tumor formation
[98].
Induced pluripotent stem cells derived retinal rege-
neration. The absence of a regenerative pathway for da-
maged retina following injury or disease has led to ex-
periments using stem cell transplantation for retinal re-
generation [99]. iPSCs are both an unlimited source for
retinal repair and hoping means for genetic disease mo-
deling and pharmaceutical projects, [67] and encourag-
ing results have been demonstrated in rodents [99].
iPSCs can be transplanted and integrated into the retina
of adult mice as well-differentiated retinal cells. Thus,
these cells have the potential to be exploited to recover
and regenerate diseased retina as cell replacement the-
rapy [100]. Induced pluripotent stem cells are ESCs-
like pluripotent cells able to differentiate into the majo-
rity of body cells. This potential ensures an unlimited
source of differentiated cells to replace those lost in ma-
ny human degenerative diseases [67]. Both three-factor
(Oct3/4, Sox2 and Klf4) and four-factor (Oct3/4, Sox2,
Klf4 and c-Myc) human iPSCs could be successfully dif-
ferentiated into retinal cells by small-molecule induc-
333
STEM CELLS AND GENETIC DISEASES
tion [77]. Hara et al. described the in vitro differen-
tiation of retinal cells from HPSCs by small-molecule
induction, including ganglion cells, and photoreceptor
cells from iPSCs transplanted into mouse retina [100].
The iPSCs of swine eye which is a close anatomical and
physiological match to the human eye can differentiate
into photoreceptors in culture, and these cells can inte-
grate into the damaged swine neural retina, thus, lea-
ving foundation stone for further research using the pig
as a model for retinal stem cell transplantation [99]. The
ocular cells such as RPE are of particular interest becau-
se they could be used to treat the degenerative eye disea-
ses, including age-related macular degeneration and RP.
iPSCs can differentiate into functional RPE that are
quantitatively similar to HESC-RPE in their differentia-
tion potential [79]. RPE generated from these human
iPSCs revealed a disease-specific functional defect that
could be corrected either by pharmacological means or
following targeted gene repair [101].
However, the major risk with a possible transplan-
tation of human iPSCs cells under retinal diseases is
their ability to form tumors including mature and imma-
ture teratoma [100].
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Ñòîâáóðîâ³ êë³òèíè ³ ãåíåòè÷í³ çàõâîðþâàííÿ
Ðåçþìå
Îáãîâîðþºòüñÿ ðîëü ñòîâáóðîâèõ êë³òèí ó ë³êóâàíí³ ãåíåòè÷íèõ
çàõâîðþâàíü, òàêèõ ÿê âèïàä³ííÿ âîëîññÿ ³ ðåãåíåðàö³ÿ ñ³òê³âêè.
Ïðè êîðåêö³¿ ãåíåòè÷íèõ çàõâîðþâàíü, ñïðè÷èíåíèõ íàÿâí³ñòþ
ïåâíèõ ìóòàö³é, íàéïåðñïåêòèâí³øèì ââàæàþòü ïåðåñàäæåííÿ
ñòîâáóðîâèõ êë³òèí áåç òàêèõ ìóòàö³é äëÿ ïîäàëüøî¿ êë³òèííî¿
ðåãåíåðàö³¿ ³ â³äíîâëåííÿ íîðìàëüíèõ ôóíêö³é òêàíèí.
Êëþ÷îâ³ ñëîâà: ñòîâáóðîâ³ êë³òèíè, ãåíåòè÷í³ çàõâîðþâàííÿ,
çàâèòêà, ñ³òê³âêà îêà, ðåãåíåðàö³ÿ.
Ñ. Øàõèä, Ñ. Èðøàä
Ñòâîëîâûå êëåòêè è ãåíåòè÷åñêèå çàáîëåâàíèÿ
Ðåçþìå
Îáñóæäàåòñÿ ðîëü ñòâîëîâûõ êëåòîê â ëå÷åíèè ãåíåòè÷åñêèõ çàáî-
ëåâàíèé, òàêèõ êàê âûïàäåíèå âîëîñ è ðåãåíåðàöèÿ ñåò÷àòêè. Ïðè
êîððåêöèè ãåíåòè÷åñêèõ çàáîëåâàíèé, âûçâàííûõ íàëè÷èåì îïðå-
äåëåííûõ ìóòàöèé, íàèáîëåå ïåðñïåêòèâíûì ñ÷èòàþò ïåðåñàäêó
ñòâîëîâûõ êëåòîê áåç òàêèõ ìóòàöèé äëÿ ïîñëåäóþùåé êëåòî÷-
íîé ðåãåíåðàöèè è âîññòàíîâëåíèÿ íîðìàëüíûõ ôóíêöèé òêàíåé.
Êëþ÷åâûå ñëîâà: ñòâîëîâûå êëåòêè, ãåíåòè÷åñêèå çàáîëåâà-
íèÿ, óëèòêà, ñåò÷àòêà ãëàçà, ðåãåíåðàöèÿ.
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