Cellule staminali pluripotenti indotte per studi su malattie genetiche

[Park IH, Arora N, Huo H, Maherali N, Ahfeldt T, Shimamura A, Lensch MW, Cowan C, Hochedlinger K, Daley GQ. Disease-specific induced pluripotent stem cells. Cell. 2008 Sep 5;134(5):877-86. doi: 10.1016/j.cell.2008.07.041. Epub 2008 Aug 7.]

Full Text: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2633781/


Tissue culture of immortal cell strains from diseased patients is an invaluable resource for medical research, but is largely limited to tumor cell lines or transformed derivatives of native tissues. Here we describe the generation of induced pluripotent stem (iPS) cells from patients with a variety of genetic diseases with either Mendelian or complex inheritance that include: adenosine deaminase deficiency-related severe combined immunodeficiency (ADA-SCID), Shwachman-Bodian-Diamond syndrome (SBDS), Gaucher disease (GD) type III, Duchenne (DMD) and Becker muscular dystrophy (BMD), Parkinson disease (PD), Huntington disease (HD), juvenile-onset, type 1 diabetes mellitus (JDM), Down syndrome (DS)/trisomy 21 and the carrier state of Lesch-Nyhan syndrome. Such patient-specific stem cells offer an unprecedented opportunity to recapitulate both normal and pathologic human tissue formation in vitro, thereby enabling disease investigation and drug development.

Nel testo, critica al modello animale di sindrome di Down:

Murine models of human congenital and acquired diseases are invaluable but provide a limited representation of human pathophysiology. Murine models do not always faithfully mimic human diseases, especially for human contiguous gene syndromes such as trisomy 21 (Down syndrome or DS). A mouse model for the DS critical region on distal human chromosome 21 fails to recapitulate the human cranial abnormalities commonly associated with trisomy 21 (Olson et al., 2004). Orthologous segments to human chromosome 21 are present on mouse chromosomes 10 and 17 and distal human chromosome 21 corresponds to mouse chromosome 16 where trisomy 16 in the mouse is lethal (Nelson and Gibbs, 2004). Thus, a true murine equivalent of human trisomy 21 does not exist. […] 

For cases where murine and human physiology differ, disease-specific pluripotent cells capable of differentiation into the various tissues affected in each condition could undoubtedly provide new insights into disease pathophysiology by permitting analysis in a human system, under controlled conditions in vitro, using a large number of genetically-modifiable cells, and in a manner specific to the genetic lesions in each – whether known or unknown. Here, we report the derivation of human iPS cell lines from patients with a range of human genetic diseases.


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