Human stem cell lines from genetically flawed human embryos have been created by US scientists.
The team that produced the mutant lines at the Reproductive Genetics Institute in Chicago believes the cell lines will help shed light on genetic diseases and could be used to test new treatments.
The team is the first to announce the creation of human embryonic stem cell (ESC) lines from embryos with specific genetic diseases, However, other groups around the world have also been racing to develop mutant ESCs, and New Scientist has learned that one group in the UK has already created a line for cystic fibrosis.
Advertisement
The US cell lines were produced from embryos left over from in-vitro fertilisation procedures. The embryos were discarded after genetic screening revealed they had defects. The immortal lines generated include several for diseases caused by single gene mutations, including some muscle and blood disorders.
鈥淭his is a significant advance for the field,鈥� says Leonard Zon, president of the International Society for Stem Cell Research (ISSCR), speaking to Associated Press. 鈥淲e may learn a lot about the biology of basic diseases by having those lines available.鈥�
Master protein
Yurii Verlinksy, president of the Reproductive Genetics Institute, will present the details at the ISSCR鈥檚 annual meeting in Boston on Friday. The mutant lines are among a total of 46 new ESC lines created by the team.
An ESC line is a collection of stem cells, taken from a single embryo, and multiplied in the lab while maintaining their primitive state. In this way, just tens of cells can ultimately generate millions of cells for research. However, maintaining ESCs in their unspecialised state is extremely difficult as even slight stresses can cause them to differentiate and specialise.
Verlinsky鈥檚 team demonstrated that their new ESC lines were unspecialised by showing they express certain 鈥渕aster proteins鈥� like Oct-4, which are indicative of embryonic stem cells.
The flawed ESC lines developed also include mutations that cause Marfan syndrome, myotonic dystrophy, neurofibromatosis type 1, Fragile X syndrome and Fanconi anaemia.
Gene therapy
鈥淓stablishment of embryonic stem cells derived from mutant embryos provides new opportunities for studying and treatment of human genetic disorders, gene therapy, pharmaceutical development and toxicological screening technologies,鈥� says the team.
Stephen Minger, director of the stem cell biology laboratory at King鈥檚 College London, UK, agrees that such mutant ESCs could help scientists better understand certain diseases and test treatments. But he adds each line will have 鈥済reater or lesser merit鈥� depending on the disease.
He told New Scientist that the team at King鈥檚 has just created a mutant human ESC line for cystic fibrosis, details of which they are submitting now for publication. They also plan to create a line for Huntington鈥檚 disease, which could have 鈥渉uge clinical relevance鈥� he says.