Genetic heart and skeletal muscle diseases are challenging to treat with no curative treatment currently available. The complex and intertwining relationship between heart and skeletal muscle diseases remains underappreciated. Although many share the same genetic causes, some patients develop heart or skeletal muscle dysfunction, while others experience both. Understanding why the same mutation affects different muscle tissues is crucial for improving diagnosis and developing targeted treatments in the future.
reNEW research
We untangle heart and skeletal muscle disease by differentiating human stem cells into both muscle types. We focus on ALPK3, a gene known to cause heart disease. Around 50% of reported patients with two altered copies show skeletal muscle abnormalities, yet the role of ALPK3 in skeletal muscle disease is completely unknown. By comparing how ALPK3 affects each muscle type, we hope to understand why some patients develop disease in one muscle type or both. Ultimately, this will support the development of precision medicine.
Image description
Stem cell-derived myoblasts fuse together into muscle fibres —a golden moment in skeletal muscle development.
Credits
Yinghan (Winnie) She, PhD student, Elliott and Porrello lab, reNEW Melbourne.
