Skip to main content

Intravenous injection restores blood genes in fetal

Intravenous injection of nanoparticles carries donor DNA and synthetic molecules to cure genetic diseases that cause fetal blood disorders. Scientists at Yale University in New Haven conducted the first demonstration of fetal-specific gene editing to correct mutations that cause severe forms of anemia.

More than 8 million babies worldwide each year are born in severe genetic disorders including hemoglobinopathies is a single gene disorder with a global carrier frequency of more than 5%. Children affected by β-thalassemia require a lifetime transfusion or bone marrow transplant which often leads to serious complications including iron overload, sepsis and graft-versus-host disease.

Penelitian Intravenous injection restores blood genes in fetal

The researchers reported a new technique to Nature Communications involving intravenous injection of nanoparticles to deliver synthetic molecules known as peptide nucleic acids (PNAs) and donor DNA to the target gene and form a triple helix that triggers a cell repair mechanism. Healthy donor DNA paired with PNA in nanoparticles serves to repair the mutation.

"The treated mice had normal blood counts, the spleen returned to normal size, and they lived a normal life span, while the untreated died much earlier. We have dramatic long-term survival benefits," said Peter Glazer of Yale University.

Glazer developed a technique combining PNA and DNA to repair gene mutations. Mark Saltzman created the nanoparticles as sending the molecule packets when injected intravenously. The structure uses a degraded polymer designed to measure 200 to 300 nanometers to readily accumulate in the fetal heart where stem cells migrate to the bone marrow.

"People who have thalassemia become more difficult to treat because they do not have normal red blood cell function. We correct this gene in the fetus, so you see more benefits because they are not sick," Saltzman said.



The researchers say this method can be done on live animals, while other gene-editing procedures are mostly limited to cells in petri dishes. The Yale team uses a chemical process where targeted gene repair is more precise and produces fewer off-target effects.

Journal : Adele S. Ricciardi et al. In utero nanoparticle delivery for site-specific genome editing, Nature Communications, 26 June 2018, DOI:10.1038/s41467-018-04894-2

Comments