06:10am Sunday 15 December 2019

Genetic cause of cleft palate

A protein called GSKIP plays a crucial role in embryonic development. The researchers shut down the gene responsible for GSKIP in a mouse (knockout model), which then developed a cleft palate and severe respiratory problems. “It is the first time that a specific function in a living organism has been ascribed to this protein,” says Klußmann who led the study of Veronika Anita Deák from his research group. The research was published in the online edition of the Journal of Biological Chemistry.

In the study, the scientists used the conditional knockout process, in which a biological switch is introduced into a gene (Cre/lox) that shuts it down. Once they had established the function of the GSKIP protein in mice in this way, the researchers compared the genes responsible for it in mice and in humans. They found a high degree of correlation with humans who suffer from Goldenhar syndrome. However, while many of the knockout mice did not survive birth owing to respiratory problems, humans born with a cleft palate face less serious complications: physical malformation can be corrected with surgery and respiratory problems can also be controlled.

Veronika Anita Deák et al.: The A-kinase anchoring protein GSKIP regulates GSK3β activity and controls palatal shelf fusion in mice (Journal of Biological Chemistry)

PD Dr. Enno Klußmann


Josef Zens

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