Progeria is a rare genetic disease characterized by early aging of the child.

Progeria, also known as Hutchinson-Gilford syndrome, is a rare genetic disorder. It is characterized by increased aging of the body. Children with this pathology show early signs of old age.

At birth, the child does not present any abnormalities. It appears “normal” until infancy. Gradually, his morphology and his body develop abnormally: he grows less quickly than normal and does not gain the weight of a child of his age. In the face, development is also delayed. He presents prominent eyes (in relief, strongly advanced), a very thin and hooked nose, thin lips, a small chin and protruding ears. Progeria is also the cause of significant hair loss (alopecia), aged skin, joint deficiencies, or even a loss of subcutaneous fat mass (subcutaneous fat ).

The cognitive and intellectual development of the child is generally not affected. It is essentially a deficiency and consequences on motor development, causing difficulty in sitting, standing or even walking.

Patients with Hutchinson-Gilford syndrome also have narrowing of some arteries, which leads to the development of atherosclerosis (blockage of the arteries). However, arteriosclerosis is a predominant factor in an increased risk of heart attack, or even Cerebral Vascular Accident (stroke).

The prevalence of this disease (number of people affected among the total population) amounts to 1/4 million newborns worldwide. It is therefore a rare disease.

Since progeria is an autosomal dominant inherited disease, the individuals most at risk of developing such a disease are those whose parents also have progeria. The risk of random genetic mutations is also possible. Progeria can then affect any individual, even if the disease is not present in the family circle.

Progeria is a rare and genetic disease. The origin of this pathology is due to mutations within the LMNA gene. This gene is responsible for the formation of a protein: Lamine A. The latter plays an important role in the formation of the cell nucleus. It is an essential element in the formation of the nuclear envelope (membrane surrounding the nucleus of cells).

Genetic mutations in this gene lead to the abnormal formation of Lamine A. This abnormally formed protein is at the origin of the instability of the cell nucleus, as well as the early death of the cells of the organism.

Scientists are currently asking themselves about the subject, in order to obtain more details on the involvement of this protein in the development of the human organism.

The genetic transmission of Hutchinson-Gilford syndrome occurs through autosomal dominant inheritance. Either the transmission of only one of the two copies of the specific gene (either from the mother or from the father) is sufficient for the disease to develop in the child.

Furthermore, random mutations (not resulting from transmission of parental genes) of the LMNA gene can also be at the origin of such a disease.

The general symptoms of progeria are characterized by:

• early aging of the body (since childhood);
• less weight gain than normal;
• a smaller size of the child;
• facial abnormalities: a thin, hooked nose, prominent eyes, a small chin, protruding ears, etc. ;
• motor delays, causing difficulty in standing, sitting or even walking;
• narrowing of the arteries, a major risk factor for arteriosclerosis.

Since progeria is a rare, genetic and inherited autosomal dominant disease, the presence of the disease in one of the two parents is the most important risk factor.

Symptoms associated with progeria are progressive and can lead to death of the patient.

No cure for the disease is currently available. The only management of progeria is that of symptoms.

Research is then in the spotlight, in order to discover a treatment allowing the cure of such a disease.