Gene mutation linked to muscle damage, heart problems

Scientists have discovered a gene mutation that may trigger muscle and heart disorders, said a study. Researchers from Imperial College London investigated the mutation of a gene called Popeye domain-containing one in Zebrafish and found it affected both heart and muscle function, said the study.

The gene makes 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 led author Thomas Brand. (The study has been published in The Journal of Clinical Investigation.)