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Scientists have discovered a gene that is responsible for causing fibrosis - a condition that can result in life-threatening scar formation. The investigators believe the discovery, detailed in The American Journal of Human Genetics, could pave the way for new drugs that could prevent or treat the condition.
Fibrosis is defined as the formation of excess fibrous connective tissue within an organ, or tissue that is in the process of repair or reaction as the result of a wound.
Although scarring is a natural part of the body's healing process, it can be a major cause of disease and even death following certain infections, such as tuberculosis.
Some people can also experience scarring of the organs with no apparent cause. A disease called scleroderma is an example of this.
Scleroderma occurs when the body attacks its own tissues, affecting the connective tissue under the skin and surrounding internal organs and blood vessels. This can lead to shortness of breath, pain, difficulty swallowing and hypertension.
According to the World Scleroderma Foundation, around 2.5 million people worldwide suffer from the condition. But It has been unknown as to what causes scleroderma and other severe forms of scarring, and no treatment is available for the condition.
After one of the investigators discovered a family with inherited fibrosis involving the skin, tendons and lungs, an international team of researchers set out to see whether they could find a genetic cause for the condition.
The researchers involved in the study are from the University of Manchester in the UK, the University of Cape Town in South Africa, and the University of Nantes in France.
A series of patients from France were found to have the same type of inherited fibrosis. Tests on these patients revealed that they have a mutation in a novel gene called FAM111B.
Commenting on the findings, Prof. Bernard Keavney, director of the Institute of Cardiovascular Sciences at the University of Manchester and study author, says:
"Families with this particular condition are very rare, but it is possible that by identifying this new gene of essentially unknown function, our team has discovered a new pathway involved in the formation of abnormal scar tissue in other more common conditions."
Another study author, Prof. Nonhlanhla Khumalo, of the University of Cape Town and Groote Schuur Hospital in South Africa, adds that the "elucidation of the mechanisms by which FAM111B gene mutations cause fibrosis is likely to lead to the development of new drugs to treat fibrosis in the affected families and possibly prevent fibrosis in other diseases such as scleroderma."
The researchers note that their collaborations will continue in order to develop a future cure for scar formation.
Written by Honor Whiteman
Copyright: Medical News Today
Not to be reproduced without the permission of Medical News Today.
Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis, Mercier et al., published in The American Journal of Human Genetics, 21 November 2013.
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