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Stem cells from patients with genetic diseases

5 September 2008   |   Research article
Much recent work in somatic cell nuclear transfer (cloning), including applications to the UK Human Fertilisation and Embryology Authority (HFEA) to permit the production of hybrid human-animal embryos (see previous news), has been for the purposes of creating human embryonic stem cell lines for research into serious human diseases, including genetic diseases. Human embryonic stem (HES) cells are pluripotent, potentially able to give rise to almost any specialised human cell type, allowing study of the whole process of cell differentiation. Stem cells produced from embryos with genetic diseases reproduce the effects of that disease in specialised cells and tissues, and are of value in learning more about it, as well as attempting to devise treatments, whether permitting in vitro screening of potential novel drugs, or developing stem-cell therapies to correct genetic defects. However, the difficulty of creating HES cells due to a limited supply of human embryos or human oocytes (eggs) is a major barrier to research, which was a key factor in the decision of the HFEA earlier this year to permit the creation of human-animal embryos (see previous news), as well as an area of ethical debate.

A new paper in Cell reports the production of induced pluripotent stem (iPS) cells from patients and carriers of ten different serious disorders, to facilitate further medical research.Most of these diseases were Mendelian (single-gene) disorders, including Duchenne (DMD) and Becker muscular dystrophy (BMD), Huntington disease, Gaucher disease (GD) type III and adenosine deaminase deficiency-related severe combined immunodeficiency (ADA-SCID). In addition, cell lines were generated from individuals with the chromosomal disorder Down syndrome (trisomy 21) and the complex (multifactorial) conditions Parkinson disease and juvenile diabetes mellitus [Park I et al. (2008) Cell 134 (3) 1-10, doi:10.1016/j.cell.2008.07.041]

The US researchers used a variation on a relatively new technique, first reported in 2007 (see previous news) that effectively reprogrammes adult somatic cells (which are specialised cell-types with very limited capacity to form other cell types) to become pluripotent. The method uses combinations of transcription factors (proteins involved in the regulation of gene expression) previously linked with pluripotency  [Park IH et al. (2008) Nat Protoc. 3(7):1180-6], an easier procedure than the production of HES cells and one which does not require the use of human embryos or unfertilized eggs.

The Harvard Stem Cell Institute, where much of the research was carried out, is to establish a facility for the production of other disease-specific iPS cell lines, with a view to making them available to other medical researchers. Senior author George Daley commented: “The cell lines available from the iPS Core will allow stem cell researchers around the world to explore possible gene therapies for some conditions, and will aid in the development of drugs for others” (see press release).

Comment: The critical importance of HES cells in medical research has been a key factor in determining the relatively permissive UK regulatory regime; in the US, federal funding for stem cell research is restrictive, not allowing the creation of new HES cell lines and favouring research into the creation of stem cells from adult cells instead (see previous news). There has been mounting pressure from the scientific research community against these restrictions, due to the limited evidence that adult cells could be used to create stem cells; however, evidence is now mounting that it is possible. Whether these approaches will prove robust enough to eventually remove the need for research using HES cells is not yet clear, but certainly these latest results are a step towards more accessible and ethically non-controversial sources of stem cells.

Keywords: Cloning, Stem Cells