Hutchinson-Gilford Progeria Syndrome - Essay Example

The skin becomes dry and thin, baldness sets in, bones become fragile, and heart attack or stroke usually kills by age 13 (Allen, 2012). Hayley is 14 and her life has been filled with clinical treatment trials and celebrity status. She has written a book, with her mother, to give others a window into the condition. She participated in a clinical trial of lonafarnib with pravastatin (to fight cholesterol) and zoledronate (for osteoporosis). There were dramatic improvements. Best of all, her heart shows no artery deterioration.

She will be adding another trial drug, everolimus, which helps cells get rid of progerin, a protein produced by a mutant gene, which causes cells to die (Allen, 2012). There are 89 children in 32 countries, identified with progeria, and it is estimated that there are probably 150 children who actually have the disease (Allen, 2012). The incidence is 1 person in every 4 to 8 million (McClintock, Ratner, Lokuge, et al, 2007). Progeria research is advancing very rapidly. The mutant gene was discovered in 2003, and treatment trials began in 2007 (Allen, 2012).

Hutchinson-Gilford Progeria Syndrome (HGPS) is a genetic disorder, involving newly arisen, single base substitution within exon 11. This mutation results in the production of Lamin A progerin protein, which deletes 50 amino acids, causing abnormalities of the nuclear membrane, or envelope, of cells (Eriksson, Brown, Gordon, et all, 2003). Actually, skin biopsies on people of all ages, newborn to age 97, revealed that normal aging is a similar process, and that progerin is produced and deposited in the skin cells of everyone, at very low levels (McClintock, Ratner, Lokuge, et al, 2007).

It is a biomarker of normal cellular aging. However, not until the progerin builds up, in elderly people, does it invade the deep tissue (McClintock, Ratner, Lokuge, et al, 2007). With HGPS, there is overwhelming progerin build-up. There is additional evidence, very recent, that un-repaired ROS-induced DSB (double strand breaks in the DNA) contribute significantly to the RD and HGPS phenotypes, and that inclusion of NAC (N-acetyl cysteine) in a combinatorial therapy might prove beneficial to HGPS patients (Richards, Muter, Ritchie, Lattanzi, & Hutchison, 2011).

The child with progeria looks normal at birth, with a normal weight, but growth slows by the end of the first year. The progeria child is shorter than average, has a sculpted nose, alopecia, visible veins of the scalp, loss of subcutaneous fat, and dystrophic nails, skeletal abnormalities, dental deformations, severe osteolysis, and mandibular and cranial dysplasia (McClintock, Ratner, Lokuge, et al, 2007). Here are two photos illustrating the typical effects of progeria: 12 year old girl, South Africa 15 year old boy, India (Faul, 2011) (Chandravanshi, Rawat, Dwivedi, et al, 2011) Here is a photo of a family in India with three children suffering from progeria: One of the factors that make this a particularly interesting case is the presence of progeria siblings born to first cousins and, therefore, an indication of genetic inheritance.

Another factor that makes this case significant is the age of the children, specifically a 17 year old boy and a 19 year old girl with progeria. Since HGPS is said to age a person at a rate of eight times the normal rate, that would indicate age equivalence of 136 years old and 152 years old respectively. Logically, this, along with their less severely affected appearance, leads me to question their HGPS diagnoses. I