Positive results of progeria treatment were obtained for the first time
Progeria, or Hutchinson-Guilford syndrome, is a rare genetic disease manifested by premature aging of patients and their death from diseases of the cardiovascular system at the age of about 13 years. The cause of the disease is a mutation that leads to the synthesis of progerin protein, which blocks the normal functioning of cells. In part, the toxic effect of progerin on the body is due to the attachment of a molecule known as a farnesyl group to it, which is blocked by farnesyltransferase inhibitors.
The results of a clinical study conducted by specialists of the Boston Children's Clinic and completed just 6 years after the identification of the genetic cause of the disease showed significant improvements in parameters such as body weight, bone structure and, most importantly, the state of the cardiovascular system. Improvements were registered in all participants of the study, the leader and inspiration of which was Dr. Leslie Gordon, director of the Progeria Research Foundation and the mother of a child with this rare pathology.
In total, 28 children from 16 countries took part in the study, which lasted for 2.5 years – 75% of all known cases of the disease in the world at the beginning of the study. 26 participants had a classical form of progeria. All children visited the Boston Clinic once every 4 months to undergo a comprehensive medical examination.
Experimental therapy consisted of oral administration of the farnesyltransferase inhibitor lonafarnib, provided by Merck, taken 2 times a day.
The rate of weight gain of participants was chosen as the main indicator of the effectiveness of therapy, since without treatment such patients gain weight very slowly. In addition, the researchers assessed the elasticity of arterial walls (a prognostic factor for the development of heart attacks and strokes in the general population), as well as bone density and stiffness (indicators of osteoporosis) of participants. Each child who completed the study had improvements in the ability to gain additional body weight, increased elasticity of blood vessels and improved bone structure.
Earlier studies have demonstrated that progerin is also produced in the body of healthy people, while its synthesis increases with aging. The results of a number of studies have confirmed the existence of a relationship between this protein and normal aging, including its role in genetic instability, especially in telomere dysfunction. The authors plan to continue their work on studying the effects of farnesyltransferase inhibitors, the results of which will help to understand the causes of the development of diseases of the cardiovascular system affecting millions of people, as well as the mechanisms of the normal aging process.
Article by Leslie B. Gordon et al. Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson–Gilford progeria syndrome is published in the journal Proceedings of the National Academy of Sciences.
Evgeniya Ryabtseva
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