The movie ‘Paa’ has suddenly raised a number of brows, evoking great interest and curiosity about a disease that was probably almost unheard of amongst the hoi polloi. Progeria, a disease in which a child ages prematurely, is a genetic disease that is so rare that it affects one out of every eight million newborns across the globe. Progeria’s severest type is known as Hutchinson-Gilford Progeria Syndrome (HGPS).

Caused by a mutation in the lamin A (LMNA) gene, progeria manifests in the first year of life. This mutated gene weakens the nucleus of the cell, making the latter unstable and easily prone to destruction or degeneration. A bald and relatively large head, wrinkled skin, stiff joints, and a tweaked nose, are characteristic of the condition.  Although these children display severe growth retardation, they usually have normal intelligence. Their survival rate is low and they rarely live beyond 13 years of age, often succumbing to heart attacks or strokes.

Earlier, the diagnosis had to be made clinically only, based on the signs and symptoms of progeria. However, now there is a genetic test to diagnose HGPS that can help to identify such cases around infancy so that immediate treatment can be sought. Scientists are researching molecules like Farnesyltransferase inhibitors (FTIs), which were actually developed to treat cancer cells, to try to reverse the structural abnormalities in the cells.

Diseases like Progeria remind us that life is not only short but is also absolutely unpredictable. People hanker after purely material gains, often neglecting their families, friends, and themselves too. We need to live every day of life in a balanced manner, devoting sufficient time to work, play, and rest. Only then will we be in a position to say that we have not lived in vain!

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Tags: Farnesyltransferase inhibitors, FTIs, HGPS, Hutchinson-Gilford Progeria Syndrome, lamin A gene mutation, LMNA gene mutation, Paa, Progeria

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