Quail embryos + a prickly protein = major discovery in birth defects

Using advanced imaging to monitor quail embryos – which develop similarly to humans – researchers analysed how a specific part of the neural tube formed, which is essential in the development of the spinal cord, nervous system and other important tissues.

Dr Mel White from the Institute for Molecular Bioscience said they watched in “real time” how a disruption from a protein – known as PRICKLE1 – during neural tube formation led to birth defects – a process that has never been observed this way before.

“The neural tube is formed at about 4 weeks of gestation in human embryos, but when something goes wrong in the cells, it can cause birth defects, many of which are fatal,” Dr White said.

“Once formed, the damage cannot be undone, and those babies who do survive often require surgery and can have lifelong disabilities.

“Neural tube defects are the second most common form of birth defects, after the heart, and can affect about one in every 1000 pregnancies worldwide, but we don’t really have any effective treatments.”

One of the most common neural tube birth defects is spina bifida, which can be prevented in some cases with folic acid supplements during pregnancy.

This study examined junctional neural tube defects which were only discovered 9 years ago and occur when the upper and lower sections of the spinal cord fail to join correctly. 

Dr White hopes the findings will lead to preventions similar to those for spina bifida. 

“Our study provides new avenues for future treatments because we haven’t known exactly how this disruption in neural tube formation occurs, until now,” Dr White said.

Lead author Dr Jian Xiong Wang said quail embryos were studied because their neural tube junctional region formed similarly to humans.

“We used advanced imaging techniques to watch the quail embryos form in real time, and how PRICKLE1 impacted this process,” Dr Wang said.

“PRICKLE1 is a protein that everyone has in their bodies and is vital for tissue development.

“When the neural tube junction formed, we found that if PRICKLE1 was disrupted it would impact that formation process, causing a birth defect.

“We hope these findings will help scientists better understand how these birth defects arise and unlock the potential for future prevention, screening and treatment.”

The research is published in Nature Communications.