Children's Progeria: Do Children Have a Chance?
Children's progeria is a genetic disorder that leads to irreversible changes in the system of internal organs due to premature aging of the whole organism. For the first time this affliction was identified and described in 1889 by J. Hutchinson and independently from him in 1904 by H. Guilford. Despite the fact that childhood progeria is an extremely rare disease, more than 150 cases have been described since its discovery. And each of them is carefully studied by a huge number of scientists.
Only one in 7 million newborns is diagnosed with Hutchinson-Guilford syndrome. Children's progeria develops rapidly - literally a year the body of the patient grows old for 5-9 years. Children in rare cases survive to 23 years of age, dying from diseases more typical of older people. The first signs of "childhood old age" are manifested in children, beginning with an early age (2-3 years).
As such, treatment does not exist yet, that is, medicines are prescribed only for symptomatic treatment of side illnesses. But scientists around the world are studying the problem and are looking for effective ways to solve it.
Child progeria is characterized by the following manifestations:
- small growth;
- light weight (13-22 kg);
- the finest skin through which the vessels are visible;
- inactive joints of hands and feet;
- big head, but with a small face;
- high voice.
Causes of the disease
All scientists agree that child progeria is not a disease transmitted by inheritance. The world knows only 1 family, where all 3 children have inherited this syndrome.
Not so long ago it was believed that the only reason for "childhood old age" is the mutation of one gene that takes part in the formation of the protein of lamin A. On the basis of this protein, cell nuclei are built. In the process of transformation of prelimin A into a mature protein, failures occur. Thus, lamina A in the end is significantly different from healthy protein. This leads to a variety of pathological changes in the child's body that characterize the Hutchinson-Gilford disease. Child progeria begins to progress, causing premature aging.
But some scientists have discovered one more gene in DNA, the mutation of which inevitably leads to this disease. Irreversible processes in the BAF-1 gene are the cause of the development of defects in the cell membrane. And since BAF-1 interacts with other proteins, the mutation in its structure causes disorders in other proteins.
Is there a chance?
To date, scientists face the complex task of a comprehensive study of the process of gene mutation. And if they succeed, the sick children will have a real chance to defeat the children's progeria, and doctors will prevent it from appearing.
It is worth noting that many patients had a weak hope of salvation. US scientists have embarked on a clinical trial of a remedy against this ailment. It is possible, however, that not every child can live to this time. But in any case, if the tests are completed successfully and the children's progeria will be defeated, it will be a victory for all those who do everything in the name of saving their children from such a terrible disease.