One of my favorite actors is Atticus Shaffer. He plays the lovably eccentric Brick on my family’s guilty pleasure The Middle. Besides having an awesome first name, Atticus also has osteogenesis imperfecta (OI) a genetic disorder where there is a mutation in the gene for collagen, an important building block for bones and ligaments.
People with OI make fragile bones that break easily. You may remember OI depicted in the M. Night Shyamalan movie “Unbreakable.”
There is good news for those with OI. Using gene therapy and induced pluripotent stem cell technology, scientists have been able to take cells from a patient with OI, correct the defective gene, induce pluripotency in the corrected cells and then coax them into collagen-producing cells. These new cells produced normal collagen and built bone in the lab.
From the journal Molecular Therapy:
Osteogenesis imperfecta (OI) is caused by dominant mutations in the type I collagen genes. In principle, the skeletal abnormalities of OI could be treated by transplantation of patient-specific, bone-forming cells that no longer express the mutant gene. Here, we develop this approach by isolating mesenchymal cells from OI patients, inactivating their mutant collagen genes by adeno-associated virus (AAV)-mediated gene targeting, and deriving induced pluripotent stem cells (iPSCs) that were expanded and differentiated into mesenchymal stem cells (iMSCs). Gene-targeted iMSCs produced normal collagen and formed bone in vivo, but were less senescent and proliferated more than bone-derived MSCs. To generate iPSCs that would be more appropriate for clinical use, the reprogramming and selectable marker transgenes were removed by Cre recombinase. These results demonstrate that the combination of gene targeting and iPSC derivation can be used to produce potentially therapeutic cells from patients with genetic disease.
This means that scientists can grow these corrected cells, coax them into cells that produce normal collagen and in the future possibly use them for therapy for those with OI. And because these cells came from the patient, rejection will hopefully not be an issue. One more example of very promising research using ethical gene therapy and stem cell technologies.
LifeNews.com Note: Rebecca Taylor is a clinical laboratory specialist in molecular biology, and a practicing pro-life Catholic who writes at the bioethics blog Mary Meets Dolly. She has been writing and speaking about Catholicism and biotechnology for five years and has been interviewed on EWTN radio on topics from stem cell research and cloning to voting pro-life. Taylor has a B.S. in Biochemistry from University of San Francisco with a national certification in clinical Molecular Biology MB (ASCP).
