Scientists find gene linked to severe muscle disease

London, March 6:  Swedish researchers have identified a specific gene that can prevent a serious muscle disease called muscular dystrophies.

Muscular dystrophies are a group of congenital genetic diseases that is caused by mutations in a person's genes, and leads to muscle weakness and severe disability. It also reduces life expectancy. Currently, there are no effective treatments available for the condition.

The team at Umea University, Sweden, found that the novel gene, fhl2b, prevents muscles in the body from breaking down.

They found that the gene is expressed in eye muscles throughout life, but not in other muscles on the body.

It has previously been discovered that the muscles that control eye movements are not affected by muscular dystrophy, even in otherwise severe disease processes. In people affected by muscular dystrophies, the muscles in the body atrophy while the muscles of the eye remain resistant despite having the same gene defect. However, it has been unclear what this resistance of the eye's musculature is due to.

For the new study, published in the journal Nature Communications, the team genetically modified zebrafish using the Nobel Prize-winning Crispr/Cas9 genetic scissors. They created new genetic disease models that were used on zebrafish.

Their results showed that the gene expression in the eye muscles was increased, suggesting that this protects against muscle breakdown.

"You could say that the eye muscles function as both an eye-opener for understanding the disease and as a door opener to a treatment for the whole body," said Fatima Pedrosa Domellof, Professor of eye diseases at Umea.

The researchers further tested overexpressing the fhl2b gene in all muscle tissue of zebrafish with the serious muscle disease called Duchenne muscular dystrophy.

They found that the gene helped save zebrafish's muscles. In fact, they became significantly stronger, helping the fish survive longer.

"There is a long way to go before we arrive at new treatment methods. But the results mean that we have a clear track for further research on how we can use the specific gene and protein to slow down this painful disease progression," said Jonas von Hofsten, Associate Professor at Umea.