Table of Contents
Progeria, or Hutchinson–Gilford progeria syndrome, is an extremely rare genetic disorder in which affected children develop 8-10 times faster than the normal rate, leading to premature aging of their cells and characteristic physical features of older people. Progeria was first described in 1886 by Jonathan Hutchinson, and later on in 1897 by Hasting Gilford, giving it the name of Hutchinson – Gilford syndrome. The word “progeria” itself is derived from the Greek words “pro” which means “premature”, “before” and “geria” which is the commonly used prefix for “old age”.
It is believed that progeria is common in 1 in every 4 million births, according to a study made in the Netherlands. On a more global scale, there are currently about 100 known cases of progeria in the known, and possibly 150 undiagnosed cases (but suspected because of characteristic physical features of the disease). In September 2011, was reported the first case of a black child with progeria (South Africa). She was born in 1999 and is currently alive, being monitored for her condition by the Progeria Research Foundation at the Children Hospital, Boston.
What is the Cause of this mysterious disorder?
Before the 20th century, little was known about progeria, particularly its causes and molecular characteristics. Fortunately, increasing researches and interests in this fascinating topics have yielded a lot of results, and today scientists are better able to understand and apprehend the exact mechanism that yields to this condition.
A particular structural protein, lamin A, is needed as an integral part of the cellular lamina. This protein provides support to the nucleus of each cell in our body, and as we know, cells nuclei are the organelles within which the genetic code is contained. When lamin A is not synthesized properly (in a case of alteration in its genetic sequence such as in progeria for example), the proteins that result are extremely short and incomplete, and they provide an abnormal shape to the cellular nuclei. Consequently, because the nucleus of the affected cells (virtually all in the body) is not strong enough, this limits the cells ‘ability to divide during mitosis, thus hindering cellular replication. This is why the cells experience premature aging in progeria.
Symptoms and Characteristics of Progeria
In children with progeria, symptoms almost always develop within the first years of life. The constellation of symptoms include all those related to failure to thrive and developmental delays. Around 1-2 years, these children present with marked failure of achieving developmental milestones. Alongside with that, they present with the typical facial features characteristic of progeria, which include a pinch and beaked nose, narrowed face, prominent eyes, a small face with recessed jaw and finally, a head significantly larger than the body (with prominence of the scalp veins which are even more highlighted by the hair loss).
Because of the speedy rate of cellular turnover and cells aging, children with progeria tend to have a wrinkled skin, and also develop loss of vision, heart problems, kidney problems and liver problems. Atherosclerosis can also be part of the vascular diseases they encounter. The musculoskeletal system is also affected, and children with progeria tend to develop diseases of the elderly such as arthritis, joint stiffness, hip dislocation and increased incidence of bones fractures.