Progeria – A condition that could give clues to the holy grail of medicine

Perhaps, if one were to ponder on what the holy grail of medicine would be, without much thought, it can be concluded that it is a cure for aging. Man has often tried to understand it, dreamt of unravelling it, fantasized of conquering it, reversing it, stalling it, and yet all of this until now has been in the realms of imagination, in stories and novels; see the movie ‘The Man from Earth’, read the ‘Harry Potter’ series, and if you are into Bollywood, see the movie ‘Paa’. It is perhaps the most mysterious of mysteries under the sun and mankind is inching closer to solving it now, than ever before. One serious problem encountered in solving this mystery arose from the fact that the underlying mechanism cannot possibly be studied until somewhere biology took a turn for the worst and thus emerged a condition which could be studied and its etiology arrived at.

Senescence is the scientific term for the process of aging. As most mysteries go, pondering upon them and observing the pathology often helps in arriving at a solution, its cause and prophylactic measures to prevent it.

One rare condition that has helped in observing the tell-tale mechanisms of aging and its etiology is an accelerated aging disorder called progeria. First described in the 18th century by two famous physicians, it is now eponymously called ‘Hutchinson-Gilford Progeria Syndrome’. Progeroid Syndrome is an umbrella of syndromes in which each condition shows a certain aspect of accelerated aging, but this condition of Hutchinson-Gilford Progeria syndrome shows an all-round accelerated aging process at an average of 7 times the normal rate. However, it is an extremely rare hereditary disorder following Mendelian inheritance. Although, it has never been shown because most patients live only till their mid-teens, much before the age of reproduction.

The earliest symptoms seen are:

• Failure to thrive (due to which the infant is unable to gain weight despite feeding)
• Thickening of skin

As the child wades through infancy into toddlerhood, other symptoms begin to show up:

• Stunted growth
• Complete hair loss
• Small face with shallow cheeks

In early childhood to late pre-adolescence, more symptoms appear:

• Wrinkled skin
• Atherosclerosis
• Loss of eyesight
• Loss of fat in the body
• Muscle wasting
• Kidney failure
• Stiff joints
• Hip dislocations (a hallmark of normal aging that occurs in those who live up to their late teens)

The most common cause of death is stroke or heart attack.

Research has shown that the culprit here is a small protein called progerin which doesn't undergo a chemical reaction and thereby anchors it to the nucleus and causes the cell to lose its ability to divide and form new cells. As of now, there is no cure, however, the only management is with anti-cholesterol agents and other drugs to manage arthritic symptoms. Newer drugs are being researched to manage it better. Perhaps studying the genetic causative factors may unravel a certain important facet that would help in understanding the process of senescence.