Progeria: A genetic disorder

aboni_nasir

The birth of a child gives birth to a mother, and every mother dreams of a healthy child. Nothing can prepare a parent for the shock of discovering that there is something wrong with their unborn baby.

Parents who experience the birth of baby with a birth defect of Progeria are left stunned. Thirty years ago, virtually nothing was known about Progeria, and due to the rarity of the disease, little research was done until the 1990s.

However, Progeria is an extremely rare genetic disorder in which symptoms resembling aspects of aging are manifested at a very early age. It is one of several progeroid syndromes. It causes progressive genetic disorder that causes children to age rapidly, beginning in their first two years of life.

Progeria, also known as Hutchinson-Gilford Progeria syndrome, is caused by a mutation in the LMNA gene. The gene produces the Lamin A protein, which, according to the Progeria Research Foundation, is the “structural scaffolding that holds the nucleus of a cell together.” When the gene is defective, researchers believe, the nucleus is destabilized, leading to premature aging.

As newborns, children with Progeria usually appear normal. However, within a year, their growth rate slows and they soon are much shorter and weigh much less than others their age. While possessing normal intelligence, affected children develop a distinctive appearance characterized by baldness, aged-looking skin, a pinched nose, and a small face and jaw relative to head size. They also often suffer from symptoms typically seen in much older people: stiffness of joints, hip dislocations and severe, progressive cardiovascular disease. However, various other features associated with the normal aging process, such as cataracts and osteoarthritis, are not seen in children with Progeria.

Children with Progeria eventually they fail to thrive properly, and develop the symptoms. They usually develop some distinctive physical characteristics, like a fragile body and a small face and jaw as compared to the size of the head (skeletal dysplasia). Some other symptoms are: below average height and weight; prominent eyes, and incomplete closure of the eyelids; small chin, thin lips; Scleroderma like skin condition; Alopecia (baldness), loss of eyelashes, eyebrows; appearance of scalp veins; high pitched voice; beaked nose; ears stick out; decayed teeth or lack of teeth formation; spotty, wrinkled skin; loss of body fat and muscles; delayed dentition,  abnormal tooth formation

Children with this genetic condition usually look quite similar, irrespective of their race or ethnicity. The disorder does not affect the mental growth and development of motor skills in affected children. However, the children usually suffer from several health issues. For example:
hearing loss, hip dislocation, low bone density,stiff joints, joint contractures, insulin resistance cardiovascular diseases.
Progeria one of the most rare childhood diseases that currently exists or is known. Children affected by Progeria age extremely prematurely, and rapidly. A child in their teens with Progeria often looks like someone who has lived 80 or 90 years. The average lifespan for a child diagnosed with Progeria is just 14 years. One of the most remarkable aspects of Progeria is that it does not affect the mind. Even though there are significant changes in the physical bodies of kids with this disease, the children who are diagnosed with Progeria are very courageous, smart, and full of life. Progeria researchers have recently begun clinical trials on three different drugs that they hope will limit the aging progress in Progeria children. It is 100% fatal. That is why research is so important. Breakthroughs in the treatment of Progeria through gene therapy may affect the research and other disease-related fields as well. Progeria was first described in 1886. Follow-up research was described in 1904. Sometimes it is called Hutchinson Gilford Progeria Syndrome, for HGPS, but the end result is the same. This extremely rare genetic mutation causes the rapid aging of children in one out of 4 million births. Symptoms begin showing up around the first year of age, and then children will begin aging 7 to 10 times faster than they normally would. The biggest risk a child with progeria faces is the development of atherosclerosis. The severe hardening of their arteries begin in their early childhood, and as they reached their teen years, it becomes life-threatening.

According to the Progeria Research Foundation, Progeria is one of the most heartbreaking diseases that affects humanity. It has been identified in children in 41 different countries, but very little money has been funded to study the effects of this disease. There are only 139 known children with Progeria in the world, as the condition affects only one out of every 22 million people. On average, children with Progeria only live up to the age of 14, and while medication can help alleviate symptoms, there is no cure.

Research studies on Progeria have examined the damage caused by the mutant lamin A protein on blood vessel cells in humans and mice. These discoveries offer increased hope for a cure for Progeria and may also provide key insight into the cause of adult heart disease.

 Aboni Nasir is a graduate pharmacist. She has completed her gradation under department of pharmacy of East West University. She has interest on public health and recent health issues. Aboni is working in ACME Laboratories Ltd. in Department of Quality Control.  She can be reached at aboni.nasir92@gmail.com

 

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