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Research breakthrough paves the way for understanding serious diseases
Date:5/21/2014

A few years ago researchers described a Turkish family whose family members moved around on all fours. It turned out that they lacked the sense of equilibrium. This was caused by the rare neurological disease CAMRQ, which is the result of a mutation in the lipid pump in the cells. On the other hand, it was not known why the genetic error had such serious consequences.

The discovery provided inspiration for a Danish study of the mechanism for the vital lipid pump function, the so-called flippase, which transports lipids in the membrane that surrounds every single cell in the body. Researchers from Aarhus University have now presented a hypothesis that can explain how the flippase functions - and they have thus found the answer to a basic research question that has preoccupied researchers for years. The study has just been published in the recognised scientific journal PNAS.

Fundamental question for researchers around the world

14 different types of flippases are found in the cells. In collaboration with colleagues from Switzerland and Canada, the Danish researchers have put forward a model for how the transfer of lipid molecules takes place between the two layers in the cell membrane. The researchers created the model by mimicking the mutations from the Turkish family in the laboratory on one of the flippases - the so-called ATP8A2 - and then using computer simulations to study the structural changes of the flippase.

"With the model we have found a possible answer to the question known as 'the giant substrate problem.' It has not previously been possible to explain how a relatively small protein could transport large lipid molecules in the membrane. This fundamental question has occupied researchers around the world since the existence and size of the flippase protein became known. With the new knowledge we can understand how the mutation interferes with the lipid transport mechanism and thus, in this way, tri
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Contact: Jens Peter Andersen
jpa@fi.au.dk
45-20-43-43-62
Aarhus University
Source:Eurekalert  

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