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Progeria Disease Case Study – Major Cases of Progeria Worldwide

Progeria — derived from the Greek word for “prematurely old” — which makes body age eight to ten times faster than normal children. Their are only 80 known cases of progeria disease worldwide, including 18 in the United States. According to the Progeria Research Foundation, there are an estimated 200 children around the world who have Progeria. But nobody knows how many kids in the world have it.

Progeria Disease Case Study - Major Cases of Progeria Worldwide
Progeria Disease Case Study – Major Cases of Progeria Worldwide (Image Credit: Wikipedia)

Children with progeria, also known as Hutchinson-Gilford progeria syndrome (HGPS) are born seemingly healthy show no signs until the age of two. Later after 2, they start to exhibit growth failure, loss of body fat, hair loss, wrinkled skin, and stiffness in the joints.

People diagnosed with this disorder usually have small, fragile bodies, like those of elderly people. Later, the condition causes aged-looking skin, atherosclerosis, kidney failure, loss of eyesight, and cardiovascular problems but sufferers do not experience the mental or motor deterioration associated with normal ageing.

Progeria Causes and Symptoms

The condition affects one in eight million live births and those born with progeria typically live to their mid-teens to early twenties. Researchers say that each progeria case arises randomly due to a single letter change in one gene of the child’s DNA i.e. mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome.

The LMNA gene provides instructions for making a protein, lamin A. Protein, lamin A plays an important role in determining the shape of the nucleus within cells. Mutations that cause Hutchinson-Gilford progeria syndrome result in the production of an abnormal version of the lamin A protein. This abnormal lamin A protein makes nuclear envelope unstable, damage the nucleus and more likely to die cells prematurely.

Progeria Disease Case Study - Major Cases of Progeria Worldwide
Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome (Image Credit: Wikipedia)

Progeria, an extremely rare genetic disorder in which the symptoms resemble aspects of aging at a very early age. Kids with progeria occur out of blue. There’s no family history, no warning, no reason to think that this might be getting ready to happen,” said Dr. Francis Collins, the scientist who first discovered the gene and is now the director of the National Institutes of Health. Here below 5 major cases of progeria disease worldwide.

Case 1: Ontlametse Phalatse, South Africa

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