Study reveals gene mutation linked to muscle damage, heart problems

Scientists have discovered a gene mutation that may trigger muscle and heart disorders, according to a study released Monday by Imperial College London.

Researchers from the college investigated the mutation of a gene called Popeye domain-containing 1 in Zebrafish and found it affected both heart and muscle function. The gene appears to make a protein that is crucial for adhering muscle cells to each other, and keeping them 'glued' together. When the gene is mutated, the muscle tissue becomes significantly weakened and damaged.

The gene mutation was first discovered by researchers from the University of Ferrara, Italy, and the Beijing Genomics Institute, who studied the genetics of an Italian family, all of whom suffered from muscular dystrophy.

This condition leads to progressive weakening and damage of skeletal muscle, making movement and coordination difficult. The family also suffered from a condition called cardiac arrhythmia, which leads to an abnormal heartbeat, according to the study.

"This is the first example that this specific gene can cause both heart and muscle disease. From here, we need to find out whether this gene caused the disorders in just this family, or whether it has wider implications for other patients," said Professor Thomas Brand, the senior author of the study, from Imperial College London.

The study has been published in The Journal of Clinical Investigation. Endit