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Most of us found out about  progeria because of the movie ‘Paa‘. Amitabh Bachchan the legend of indian cinema, portrayed the role of a child ‘Auro‘ suffering from progeria in the movie. I take this movie to start my post as it is the most easy way to remind you of the condition.

Progeria was not discoverd by Amitabh Bachchan for sure. In fact it was first discovered by Jonathan Hutchinson in 1886. It’s only that the movie gave a spotlight to the condition . Like Progeria their are numerous genetic disorders that biotechnologists are trying to find a cure, or some answer for.


Progeria is a rare autosomal dominant genetic disorder with symptoms of ageing setting in at a very early age.Those suffering from progeria have a shortened life span. They mostly survive only until early twenties.There are different types of progeria, but the classic type is known as Hutchinson-Gilford progeria syndrome (HGPS).

Progeria was described independently by two different scientists , first by Jonathan Hutchinson in 1886 and later by Hastings Gilford in 1897. Hence, the name Hutchinson-Gilford progeria syndrome (HGPS).


Most children suffering from progeria have a mutated gene LMNA that codes for lamin A protein. This protein is also known as progerin and is involved in holding the nucleus of the cell together. Mutation in the protein lamin A leads to an unstable nucleus which ultimately proceeds to an early cell death leading to the symtoms of progeria.

Normally, LMNA gene codes for protein prelamin A which undergoes series of transformation to attain its final form lamin A. In most mammalian cells, lamin A, along with lamin B1, lamin B2 and lamin C, makes up the nuclear lamina, which provides structural support to the nucleus.

It was in 2003 that the cause of the disease as recognized a s a point mutation in position 1824 of the LMNA gene, which replaces a cytosine with thymine. This mutation creates a shortened m RNA transcript which when translated produces an truncated protein(incorrect version of prelamin A) known as progerin.

Weakening of the lamina limits the ability of the cell to divide . The reason behind it being that the lamina plays an important role in organizing chromatin during mitosis.


The symptoms are usually expressed very early. During the first few months after birth significant symptoms or differences from a normal child can be noticed.

  1.  The child ages past infancy.
  2. The child shows limited growth , full body alopecia(hair loss).
  3. A small face with a shallow recessed jaw, and a pinched nose are all distinctive facial features.
  4.  The patient also suffers from wrinkled skin, atherosclerosis, kidney failure, loss of eyesight, and cardiovascular problems.
  5. Scleroderma, a hardening and tightening of the skin on trunk and extremities of the body, is prevalent.
  6. People diagnosed with this disorder usually have small, fragile bodies, like those of elderly people. The usually have large head in relation to the body, with a narrow, wrinkled face and a beak nose.
  7. Prominent scalp veins are noticeable (made more obvious by alopecia), as well as prominent eyes.
  8. Musculoskeletal degeneration causes loss of body fat and muscle, stiff joints, hip dislocations, and other symptoms generally absent in the non-elderly population. Individuals usually retain typical mental and motor development.

No treatment has been proven effective till date. Most treatment options have focused on reducing complications  that arise due to the disease such as cardiovascular disease with coronary artery bypass surgery and low-dose aspirin. Several medications are being researched upon to reduce the effect of the symptoms and prolong the life of the patient.

There are many such genetic conditions that have no medication . It is here, that we should understand the importance of biotechnology to find cure to such conditions.

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