Advancing our understanding of birth defects

Advancing our understanding of birth defects

Illuminate newsletter index page, June 2018
June 2018

Dr Francine Ke, Dr Angus Cowan, Associate Professor Anne Voss
(L-R) Dr Francine Ke, Dr Angus Cowan and Associate
Professor Anne Voss.

A surprise discovery could rewrite our understanding of the role programmed cell death plays in embryonic development and congenital birth defects.

The team showed that, while programmed cell death – called apoptosis – is essential for healthy development overall, many organs and tissues do not require apoptosis to develop normally.

The study, published today in the high-ranking journal Cell, also suggested that abnormalities in cell death processes are likely to contribute to some common birth defects in humans, such as spina bifida, heart vessel defects and cleft palate.

Institute researchers Dr Francine Ke, Dr Hannah Vanyai, Dr Angus Cowan, Associate Professor Anne Voss and Professor Andreas Strasser led the research.

Cell death link

Programmed cell death, also known as apoptosis, is a normal process that – during development – eliminates unnecessary cells in a controlled way.

Apoptosis was first described as having a role in embryonic development in the 1940s. Over the past 70 years, numerous studies have implicated apoptosis as playing a crucial role in most stages and tissues during development.

Dr Ke said, in the new study, it became clear that apoptosis was not as critical during development as previously thought.

“Apoptosis was essential at specific places and times during development, but unnecessary in others."

"We identified the tissues and organs that critically require apoptosis to develop normally, and made the surprise discovery that many do not require it at all,” Dr Ke said.

The finding provides clear clues about a link between abnormalities in programmed cell death and some common congenital birth defects, including spina bifida, heart vessel defects and cleft palate.

“Our research showed that when cell death is not functioning properly, it commonly leads to developmental defects."

"This includes neural tube abnormalities, such as spina bifida, heart vessel defects and facial abnormalities, such as cleft palate,” Dr Ke said.

Surprise discovery

Associate Professor Voss said, for some time, it had been a widely-held belief that programmed cell death was necessary for the shaping of certain tissues and structures during development.

"I think it may surprise researchers to learn just how precise and limited the effects of apoptosis are in embryonic development,” she said.

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