Understanding the biology underlying a form of congenital muscular dystrophy 

Congenital muscular dystrophy (CMD) is a condition usually present from birth that is characterised by low muscle tone and reduced movements hypotonia (low muscle tone or floppiness) and reduced movements. Other common signs are tightness of the ankles, hips, knees and elbows. In rare cases, contractures can be severe and affect several joints (known as arthrogryposis). INPP5K-related CMD is caused by genetic changes in protein INPP5K, which has a role in preserving the health of cellular energy factories or ‘batteries’ called mitochondria. 

Since not much is known about the underlying molecular biology of INPP5K, the PhD student will look to identify and characterise the molecular structure of the protein INPP5K. Dr Swan and her PhD student will also investigate if known CMD-causing genetic changes in INPP5K can affect close interactions with other proteins, thereby interfering with its biological function.  

Understanding how INPP5K is built and how it functions in cells will help increase the current knowledge about the underlying causes of this condition and will provide more information for finding treatments and therapies for INPP5K-related CMD. This could lead to more accurate diagnosis, and improved treatment plans in the future, which would hopefully allow the person with CMD to live with a higher quality of life.