Scientists have discovered a gene mutation that may trigger muscle and heart disorders.
The findings, published in The Journal of Clinical Investigation, suggest that the gene, called Popeye domain containing-1, has a role in ‘gluing’ muscles cells together. When the gene is mutated, the muscle tissue becomes significantly weakened and damaged.
The above image from the study shows the muscles in the tail of a Zebrafish with a mutated version of the gene, leading to damage in the tissue. The image below it shows a Zebrafish tail with a normal copy of the gene.
"This is the first example that this specific gene can cause both heart and muscle disease."
– Professor Thomas Brand
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 who all suffer from muscular dystrophy. This condition leads to progressive weakening and damage of skeletal muscle – making movement and coordination difficult. The family also suffer from a condition called cardiac arrhythmia, which leads to an abnormal heart beat.
Scientists from Imperial, who first identified the group of Popeye genes 15 years ago, then investigated the gene mutation 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.
Although scientists have long known that muscular dystrophy is linked to heart conditions, they are still identifying the genes that cause both conditions.
“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 cause the disorders in just this family, or whether it has wider implications for other patients,” explained Professor Thomas Brand, senior study author, from the National Heart and Lung Institute at Imperial.
"POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking" is published in The Journal of Clinical Investigation
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