Hutchinson-Gilford Progeria Syndrome

                                                Image Via National Geographic

Hutchinson-Gilford Progeria is a fatal rapid aging disease that affects 1 in 20 million people worldwide. It is caused by a spot mutation in the gene LMNA in which a Thymine is put in place instead of a Cytosine. This mutation results in the protein Progerin to be created. The mutation is dominant and the Progerin makes the nucleus of a cell unstable which leads to premature aging and disease. The aging is purely physical as children with Progeria age mentally as the same rate as children without due to the fact that LMNA is not present in brain cells. Children with Hutchinson-Gilford Progeria have an abnormal amount of Progerin production leading to symptoms associated with aging such as heart disease, hair loss, arthritis, high blood pressure, and strokes. Thus, children with the syndrome usually die at the age of 13. Research for Hutchinson-Gilford Progeria has taken off in the last 20. There have been major advancements in treatments, however there is no cure.