Abstract
Down syndrome (DS, trisomy 21), is the most common viable chromosomal disorder, with an incidence of 1 in 800 live births. Its phenotypic characteristics include intellectual impairment and several other developmental abnormalities, for the majority of which the pathogenetic mechanisms remain unknown. Several models have been used to investigate the mechanisms by which the extra copy of chromosome 21 leads to the DS phenotype. In the last five years, several laboratories have been successful in reprogramming patient cells carrying the trisomy 21 anomaly into induced pluripotent stem cells, i.e., T21-iPSCs. In this review, we summarize the different T21-iPSCs that have been generated with a particular interest in the technical procedures and the somatic cell types used for the reprogramming.
Highlights
Down syndrome (DS), caused by a trisomy of chromosome 21 (HSA21), is the most common genetic developmental disorder, with an incidence of 1 in 800 live births
We found a lower proportion of excitatory glutamatergic synapses whereas the proportion of inhibitory GABA-ergic synapses was not substantially altered in neurons derived from T21-induced pluripotent stem cells (iPSCs) [23]
Since the first paper demonstrating that fibroblasts from DS patients can be reprogrammed into iPSCs by retroviral delivery of OSKM cocktail [10], several alternative methods and cell types have been used to generate T21-iPSCs (Table 1)
Summary
Down syndrome (DS), caused by a trisomy of chromosome 21 (HSA21), is the most common genetic developmental disorder, with an incidence of 1 in 800 live births. DS individuals show cognitive impairment, learning and memory deficits, arrest of neurogenesis and synaptogenesis, and early onset of Alzheimer’s disease [1,2]. They are at greater risk of developing acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML). Several models have been used to recapitulate the DS phenotype, such as mouse models [6]. A dozen other studies reporting the generation of trisomy 21 iPSCs (T21-iPSCs) have appeared in the last five years. In this concise review, we will summarize the. T21-iPSCs that have been reported up to now with a particular focus on the origin of the somatic cells and the procedures used for the reprogramming
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