A Review Of Hutchinson Gilford Progeria Syndrome

1679 words - 7 pages

Progeria is a rare disease that affects two hundred to two hundred and fifty children worldwide. Children with progeria have facial features of an aging person and suffer from many bone abnormalities, inability to gain weight, and cardio vascular disease which is responsible for their deaths. Progeria is caused by a mutation in the LMNA gene which is located in the nuclear membrane. The LMNA gene synthesizes lamin A and lamin C proteins. The intermediate filament proteins are responsible for nuclear stability and strength. The mutation found in HGPS actives splicing with in the LMNA gene. The site that is targeted by the protein Zmpste24 to remove a farnesyl group is missing in response to the deleted amino acids. The resulting lamin A protein is permanently attached to a farnesyl group which causes progerin build up with in the nuclear membrane and causes structural changes. The build up of progerin is thought to be responsible for most phenotypes associated with HGPS. In hopes of finding a cure treatments are being researched in response to blocking the farnesyl group attachment to the lamin A protein. More research in this genetic disease can lead to a better understanding in the effects of natural aging compared to the accelerated aging in progeria.

A Review of
Hutchinson –Gilford Progeria Syndrome
Hutchinson-Gilford Progeria Syndrome is a rare genetic disease caused by a mutation in the LMNA gene that can causes accelerated aging in children .According to Coppede (2013) HGPS affects one in every eight- million births or one in every four- million going based on unidentified cases. An estimate of two hundred to two hundred and fifty children living with Progeria worldwide proves just how rare this disease can be. Research is ongoing to find a cure for the symptoms associated with the aging effects of progeria such as heart disease and osteoporosis. The information discussed on this disease will be laid out in the following order:
1. An introduction to Hutchinson-Gilford Progeria Syndrome (HGPS)
2. Relating HGPS to an anatomical structure/physiological concept
3. Available cures for HGPS
4. Future development improvements for HGPS
Understanding this disease can lead to a more public awareness and hopefully one day lead to the finding of a supportive treatment or even a cure for progeria.
An Introduction to Hutchinson-Gilford Progeria Syndrome
Hutchinson-Gilford progeria syndrome is a genetic disease which affects young children within the first ten years of life. An article by Coppede (2013) describes the symptoms of children with HGPS as struggling to gain weight, loss of hair, bone and joint weaknesses, and tightening and drying of the skin over stomach and thigh regions.
The most common mutated gene that is involved in HGPS is the LMNA gene located on chromosome 1. The LMNA contains lamin A and lamin C proteins that are composed in the nuclear lamina. The importance of these proteins can be related to “nuclear shape, DNA replication...

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