There’s something wrong with one of these two zebrafish, which have been popped into an x-ray scanner to see their skeletons. But this story actually starts with a 48-year old woman and her son. They were both unusually short, with weak and flimsy bones – a condition known as osteoporosis. By analysing their DNA, researchers discovered they both carried a fault in a gene called ATP6V1H, which normally helps to maintain healthy bone growth. By recreating the same genetic fault in a zebrafish – the lower animal in the image – researchers are able to study in detail how it affects bone formation. Faults in ATP6V1H are very rare, but osteoporosis is relatively common amongst the general public, particularly women. Studying rare genetic changes sheds light on the genes and molecules that are responsible for growing strong bones, and underpins the development of new treatments for osteoporosis that will help the wider population.
Written by Kat Arney
BPoD stands for Biomedical Picture of the Day. Managed by the MRC London Institute of Medical Sciences (the new name for the MRC Clinical Sciences Centre) the website aims to engage everyone, young and old, in the wonders of biomedicine. Images are kindly provided for inclusion on this website through the generosity of scientists across the globe.