Hutchinson-Gilford Syndrome Essay

Hutchinson - Gilford syndrome, or most commonly known as Progeria, is a rare disease that is characterized by rapid and premature aging that begins in childhood. The condition does not manifest itself until after the first year of life when growth rate begins to slow down significantly. In 1886, Dr. Jonathan Hutchinson made note of a young boy with “congenital absence of hair and mammary glands with atrophic condition of the skin and its appendages” (Hutchinson, 1886). He thought it to be ectodermal dysplasia, a group of syndromes are characterized by abnormalities in the development of tissues from the ectoderm of an embryo. In 1897, a second patient was observed by Hastings Gilford whom followed the patient until his death. Gilford made the connection between Hutchinson and his own observations and related them to symptoms of early aging. In 1904, he coined the term “progeria”, ‘pro’ meaning early and ‘geras’ meaning old age in ancient Greek (Gilford, 1897). Since its initial discovery, about 100 cases of Progeria have been reported and there are approximately 40 known cases worldwide. …show more content…
In 2003, a team of researchers discovered that Progeria is caused by point mutations of the LMNA gene that codes for Lamin A and C. There is a deletion of 50 amino acids in the Lamin A protein while Lamin C remains the same. These two proteins are key components of the nuclear laminae and play a role in determining the shape of a cell’s nucleus. The substitution of cytosine for thymine makes an additional point mutation. The abnormal LMNA protein (progerin) makes the nuclear envelope unstable which results in progressive damage to the nucleus. This causes a cell to die