Health & Medicine

Scientists Edit a Genome to Correct Genetic Mutations

Catherine Griffin
First Posted: Dec 15, 2014 11:32 AM EST

Imagine being able to "edit" a person's genome in order to correct genetic mutations. Sounds like something out of science fiction, right? But it may just be possible in the future. Scientists have demonstrated a potential technique for "editing" the genome in sperm-producing adult stem cells.

In this case, the scientists conducted a "proof of concept" experiment. Using spermatogonial stem cells, which are the foundation for the production of sperm and are the only adult stem cells that contribute genetic information to the next generation, the researchers showed that they were able to repair DNA. First, they created a break in the DNA strands of a mutant gene, and then repaired the DNA through a process called homologous recombination, replacing flawed segments with correct ones.

"We showed a way to introduce genetic material into spermatogonial stem cells that was greatly improved from what had been previously demonstrated," said Christina Dann, one of the researchers, in a news release. "This technique corrects the mutation, theoretically leaving no other mark on the genome."

The main challenge was the fact that spermatogonial stem cells are notoriously difficult to isolate, culture and work with. It actually took years before conditions were created to maintain and propagate the cells. For this experiment, the researchers used specifically designed enzymes to create a double strand break in the DNA and then repair the gene.

The findings could open doors for better understanding of stem cells and advances in gene therapy. The ability to "edit" a genome could actually help with the analysis of gene function and the processes by which sperm cells divide and differentiate.

The findings are published in the journal PLOS One.

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