A Spiny Problem

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

Kat Arney

Writer

Dr Kat Arney is an award-winning science writer, broadcaster and public speaker, and is the founder and Creative Director of First Create The Media.

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• Image from work by Yihan Zhang and Haigen Huang, and colleagues
• Laboratory of Chemical Genomics, School of Chemical Biology and Biotechnology, Peking University Shenzhen Graduate School, Shenzhen, China
• Image originally published under a Creative Commons Licence (BY 4.0)
• Published in PLOS Genetics, February 2017