Hutchinson-Gilford Progeria Syndrome

Paper Summary:

The paper explains that Hutchinson-Gilford Progeria (HGS), premature aging, is named after two 19th century men, Hutchinson and Gilford, who discovered the disease, which is a mutation in one nitrogen base in a cell. The author points out that progeria, a remarkably rare genetic condition in which this mutation causes phenotypic symptoms comparative to that of an elderly person, can be seen in the DNA base on Chromosome 1. This codes for Lamin A (LMNA), a protein specifically taking part in the membrane surrounding the cell's nucleus. The paper relates that, generally, the children look perfectly normal during their first or second year of life, but from then on, the effects of HGS rapidly unfold; the average life span for a child is approximately 12-18 years. Many illustrations.

Table of Contents
Introduction
Progeria
What is It?
Who has It?
What are the Effects?
Analogies
The Records
The Cure
The Meaning behind it All

From the Paper:

"To begin with, for you to be here now, trillions of drifting atoms had somehow to assemble in an intricate and intriguingly obliging manner to create you. It's an arrangement so complex and detailed that it has never been tried before and will only exist this once. We hope that in the many years these atoms will engage in all the necessities needed for your survival. This is an underappreciated state known as existence."

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