Genetic cause of cleft palates

November 26, 2015

Some children are born with cleft palates and, of those children, some have an asymmetrical face and a malformed ear. A team of scientists led by Berlin-based researcher Enno Klußmann of the Max Delbrück Center for Molecular Medicine (MDC) has taken an important step towards discovering the genetic causes of this condition, known as Goldenhar syndrome.

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 working 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.
Source: 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)

Link to the study:

Max Delbrück Center for Molecular Medicine in the Helmholtz Association

Related Protein Articles from Brightsurf:

The protein dress of a neuron
New method marks proteins and reveals the receptors in which neurons are dressed

Memory protein
When UC Santa Barbara materials scientist Omar Saleh and graduate student Ian Morgan sought to understand the mechanical behaviors of disordered proteins in the lab, they expected that after being stretched, one particular model protein would snap back instantaneously, like a rubber band.

Diets high in protein, particularly plant protein, linked to lower risk of death
Diets high in protein, particularly plant protein, are associated with a lower risk of death from any cause, finds an analysis of the latest evidence published by The BMJ today.

A new understanding of protein movement
A team of UD engineers has uncovered the role of surface diffusion in protein transport, which could aid biopharmaceutical processing.

A new biotinylation enzyme for analyzing protein-protein interactions
Proteins play roles by interacting with various other proteins. Therefore, interaction analysis is an indispensable technique for studying the function of proteins.

Substituting the next-best protein
Children born with Duchenne muscular dystrophy have a mutation in the X-chromosome gene that would normally code for dystrophin, a protein that provides structural integrity to skeletal muscles.

A direct protein-to-protein binding couples cell survival to cell proliferation
The regulators of apoptosis watch over cell replication and the decision to enter the cell cycle.

A protein that controls inflammation
A study by the research team of Prof. Geert van Loo (VIB-UGent Center for Inflammation Research) has unraveled a critical molecular mechanism behind autoimmune and inflammatory diseases such as rheumatoid arthritis, Crohn's disease, and psoriasis.

Resurrecting ancient protein partners reveals origin of protein regulation
After reconstructing the ancient forms of two cellular proteins, scientists discovered the earliest known instance of a complex form of protein regulation.

Sensing protein wellbeing
The folding state of the proteins in live cells often reflect the cell's general health.

Read More: Protein News and Protein Current Events is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to