Hutchinson-Gilford syndrome or progeria is a fatal genetic disease that causes premature aging. A team led by Dr. Leslie B. Gordon identified a marker protein that could help you choose the best treatments.
Progeria affects about 1 child for every 8 million. Those who suffer seem healthy at birth, but show problems in development within the first year of age. In a previous study, Dr. Gordon's team had tested the effects of the lonafarnib protein, usually used against cancer. Used for 2 years, she helped patients gain weight, reduced the risk of heart attack and the typical headaches of the disease.
Despite the good results of the study, a problem persisted. There were no biomarkers that indicated the effectiveness of the treatment and any problems before they appeared. For this reason, the researchers looked for a marker protein for Hutchinson-Gilford. In this way it would be easier to measure patient progress and understand if there were any changes to be made.
The researchers started from the blood samples of 24 patients between 3 and 12 years. At the time of the study they represented about 10% of the subjects affected by the disease. The samples were taken before and after treatment with lonafarnib and compared with those of some healthy children. Scientists used a tool called RBM HumanMAP to measure levels of about 90 proteins.
The results showed profound different between healthy and sick children in more than 40% of the proteins. All of these could be biomarkers for the disease, to be used for studies and treatments. A big step forward in the fight against this still fatal disease, which could also help in the fight against more common diseases.