0
0
Researchers at UC San Francisco have made a groundbreaking discovery that could revolutionize the treatment of serious disorders before birth. The study, conducted in mice with Angelman syndrome, reveals that delivering medicine through amniotic fluid is just as effective as delivering it directly to the fetal brain via cerebrospinal fluid.
Angelman syndrome, a severe neurological condition characterized by intellectual disabilities, seizures, and abnormal gait, can now potentially be treated before birth. This could prevent the onset of debilitating symptoms that often manifest during fetal development.
Led by Tippi MacKenzie, MD, a fetal and pediatric surgeon at UCSF Benioff Children’s Hospitals, the study utilized therapeutic molecules known as antisense oligonucleotides (ASOs). These molecules can alter gene expression by interacting with RNA, ultimately affecting protein production.
“Children born with severe genetic conditions may suffer irreversible damage before birth, making postnatal treatment ineffective,” explained Dr. MacKenzie, senior author of the study published in Molecular Therapy.
Previous research has shown that Angelman syndrome can be diagnosed prenatally, and that gene expression contributing to the syndrome can be manipulated before birth. The study found that administering ASOs through amniotic fluid significantly improved motor function and learning in mouse pups after birth.
Moreover, injecting the therapy into the amniotic fluid allowed it to circulate to vital organs such as the intestines, lungs, liver, kidneys, and stomach, effectively reinstating gene expression in critical parts of the brain.
“Injecting into the amniotic fluid allowed for a higher dosage and a more gradual release of the therapy compared to injecting into the cerebrospinal fluid,” noted Dr. MacKenzie.
The implications of this research extend beyond Angelman syndrome. The team hopes to apply this prenatal treatment approach to other conditions like pulmonary hypertension and cystic fibrosis.
Maria Clark, B.S., a research associate at UCSF, emphasized the significance of the findings: “Both types of prenatal injections we tried, into the cerebrospinal fluid and into the amniotic fluid, allowed the therapy to penetrate deep regions of the brain critical for treating Angelman Syndrome.”
Looking ahead, the researchers plan to test ASO delivery through amniotic fluid in large animal models to confirm its effectiveness. They also aim to engage with parents whose children are affected by Angelman syndrome to understand their perspectives on seeking prenatal therapy.
This groundbreaking study represents a significant step forward in the field of prenatal medicine, offering hope for effective treatments for genetic disorders before birth.
