Ageing is a pretty controlled process but in the case of progeria, it is neither controlled nor well-executed. Although it is a very rare type of fatal genetic disorder, it is nearly impossible to treat.
What is Progeria?
Jonathan Hutchinson in 1886 and Hastings Gilford in 1897 independently described progeria. Therefore, for their contribution, it is also known as Hutchinson–Gilford progeria syndrome. In this syndrome, a body produces an unwanted protein called progerin, which causes the body to grow very quickly. The word progeria comes from a greek word progeros meaning prematurely old.
Let’s see the process which, with and without progeria, cells follow:
- The gene LMNA produce a protein, prelamin A.
- A farnesyl group gets attach to prelaminA’s end.
Above two steps are same in either case. However, the twist comes into light during the next step.
The farnesyl group that was attached to prelaminA’s end get detached during a healthy process. However, during progeria, it remains attached to prelaminA’s end and forms an abnormal form of prelamin A called progerin. This unwanted and abnormal protein, progerin, later causes an abnormally shaped nucleus which is responsible for almost every effect of the Hutchinson–Gilford progeria syndrome.
Such mutation is very rare, according to a study only 1 in a 4 million newborn cases goes through such mutation. According to a talk given by Sam Berns at TEDxMidAtlantic, it affects only 350 kids worldwide. However, according to Wikipedia, it falls down to 100 known cases. Life expectancy of such kids is only 13-14 years. Therefore, it is also believed that this syndrome can not be inherited because the patients do not live long enough to reproduce.
Signs and symptoms:
Although most kids born with progeria look healthy till few months after birth but few starts showing signs and symptoms during their first few months of life. Some signs and symptoms are as follows:
- Weight faltering.
- Look very old even at young age.
- Hair loss.
- Visible scalp veins.
- Wrinkled skin.
- Loss of eyesight.
- High pitched voice.
- Cardiovascular problems may occur.
- Head seems to be much bigger than normal.
- A small jaw bone
- A thin nose with a beaked tip.
Although the brain shape changes but it do not affect on an intellectual level, people with it seem to have an average or above average IQ.
A person with progeria looks older at very young age and also faces problems that are usually faced by older people. For example bone loss, heart disease, moreover, stats suggest most kids with this disease die from heart attacks.
Late Sam Berns (1996-2014) was a patient of progeria when he was asked ‘what is the most important thing that people should know about you?’ He answered, “I have a very happy life.”
He lived almost 18 years with this positive attitude, helped in creating awareness about Hutchinson–Gilford progeria syndrome.