The Italian scientist Sammy Basso, the patient should be familiar with it progeria oldest in the world, who died this Sunday at the age of 28. Basso dedicated his life to finding a cure for this rare disease that causes premature aging in people who suffer from it.
Hutchinson-Gilford syndrome, better known as progeria, is an ultra-rare disease due to its low prevalence, one case in 20 million. Around the world there are approx 150 cases, and, in Spain, there are only two, related to children.
And almost all cases of this disease involve children and teenagers, since it is a syndrome with a very short life expectancy, barely 15 years oldaccording to Mayo Clinic. Some people with progeria may go away at a younger age, while others live longer, even into their 20s. However, the case of Sammy Basso was very rare, since he reached 28.
Cause and symptoms of progeria
The syndrome of Hutchinson-Gilford or progeria is a progressive genetic disorder. It is caused by a mutation of the LMNA gene which causes the person to produce an abnormal amount of progarin, a protein whose excessive accumulation causes accelerated aging.
As said Mayo Clinicthis gene change is rarely transmitted from parents to children. That is, it is not hereditary and, in most cases, is caused by the rare genetic disorder that causes progeria. an arch.
Babies with progeria usually look healthy at birth and it is during the first year that symptoms such as slow growth, loss of fat tissue and hair loss. However, motor development and intelligence are not affected.
From the first two years of life, progeria causes an acceleration of aging in children. People with this disorder have a height and weight lower than normal for their age and some typical physical characteristics, such as a prominent forehead, protruding eyes or a thin nose with an aquiline tip.
In addition, there are patients with this genetic disorder generalized alopeciaage-looking skin, very marked blood vessels and loss of subcutaneous fat.
Progeria also causes significant health problems. They are the biggest heart problems or strokessince they are the ultimate causes of premature death in most children suffering from the disease. However, this ultra-rare syndrome can cause:
- Hardening and tightness of the skin.
- Delayed tooth formation and abnormal tooth shape.
- Some hearing loss.
- lose fat under the skin and lose muscle.
- Problems with bone growth and development.
- Joint problems, such as joint stiffness.
- Hip dislocation.
Sometimes children with progeria become complete wheelchair because of its great bone fragility. In addition, they present bone complications such as arthritis or osteoarthritis.
It should be noted that Hutchinson-Gilford syndrome does not affect intellectual levelso children with progeria have normal school development and are fully aware of the disorder they suffer from.
Progeria Research
The progeria there is no cure for it, but, unlike other rare diseases, it has some open lines of research finding treatments that improve patients’ quality of life.
In this sense, Progeria Research Foundation It is the main entity in charge of research and information gathering about the disease. Based in Boston (United States of America), they are conducting trials with two drugs aimed at strengthening the cardiovascular system, which has a great impact on these children.
One of the medicines, Zokinvy (Lonafarniv)helps prevent the buildup of defective progerin or progerin-like protein. This drug is already on the market in the United States, but not in Spain, which complicates the situation for families.
In Spain, a team led by Dr. Vicente Andrés, from the National Cardiovascular Research Center (CNIC), working on this disease and it was created in 2021 the mouse HGPSrevthe first animal model that allows suppression of progerin expression in a temporally and spatially controlled manner.
On the other hand, there is advanced research regarding gene editingaimed at reversing chromosomal changes in diseases of genetic origin, especially in the technique known as original edition.
The project of this innovative technique, developed by the team of David Liu, Harvard professor and director of the Merkin Institute for Transformative Technologies in Health Care, requires more than 25 years of research and now approaching pharmaceutical manufacturers and prepare everything necessary to approve a clinical trial in humans.