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Researchers home in on a new cause of Stargardt disease

Researchers home in on a new cause of Stargardt disease

Stararet disease is a condition that causes progressive vision loss in young people. Researchers have now found that a mutation in a specific gene is a major cause of the disease.

The new study, published in the journal Nature Genetics, was conducted by an international team of researchers. They looked at the genes of hundreds of people with Stargardt disease and found that a mutation in the ABCA4 gene was a major cause of the condition.

The ABCA4 gene provides instructions for making a protein that is involved in the transport of fats and other substances in the eye. The mutation found in this study disrupts the normal function of the protein and leads to the accumulation of harmful substances in the retina, which causes vision loss.

This is the first time that a mutation in the ABCA4 gene has been linked to Stargardt disease. The findings will help doctors to better diagnose and treat the condition.

Stargardt disease is a rare condition that affects around 1 in 10,000 people. It usually starts in childhood and leads to progressive vision loss. There is currently no cure for the condition.

The new study provides important insights into the cause of Stargardt disease and will hopefully lead to new treatments for the condition.

Stargardt disease is a disorder of the retina that leads to vision loss. Researchers have now identified a new cause of the disease, which could lead to improved treatments.

The study, published in the journal Nature Genetics, identified a mutation in a gene called CEP290 as a cause of Stargardt disease. The mutation was found in about one-third of the patients with the disease who were studied.

Previous research has shown that mutations in another gene, ABCA4, can cause Stargardt disease. However, the new study found that the CEP290 mutation is a more common cause of the disease.

The CEP290 gene provides instructions for making a protein that is involved in the development and maintenance of the retina. The mutation found in the study causes the protein to be shorter than normal. This likely disrupts the function of the protein, leading to the development of Stargardt disease.

The findings of this study could help to improve the diagnosis and treatment of Stargardt disease. In the future, treatments may be developed that target the CEP290 protein specifically. This could lead to more effective treatments for this disease.

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