Hutchinson-Gilford Progeria Syndrome Analysis

Hutchinson-Gilford Progeria Syndrome other wise known as “Progeria”, or “HGPS”, is a very rare, and fatal genetic disorder characterized by an appearance of accelerated aging in young children. The rate of aging is accelerated up to seven times that of a normal life span in first 13 years of life. Progeria comes from the Greek word (πρό), “pro” meaning premature and (γῆρας), “gerias” meaning old age. While there are different forms of Progeria, the most sever form of progeria is formally known as Hutchinson-Gilford Progeria Syndrome, which was named after the doctors in England: in 1886 by Dr. Jonathan Hutchinson who described the syndrome, and by Dr. Hastings Gilford who independently discovered it in 1904 (Jameson).

This is about equivalent to one baby with the disorder being born each year in the United States. Since this disorder was discovered over a century ago, only a little over a hundred cases have been reported, but they were hard to study from because of the lack of technology. The Progeria Research Foundation is the single organization that

     Progeria is an autosomal recessive disease, which means it is not carried on a sex chromosome. Hutchison-Gilford Progeria is caused by a mutation in Lamin A. Lamin A is a fibrous protein involved in the structure of the nuclear membrane. When there is a mutation in Lamin A it is likely the nucleus loses its normal shape and therefore its function is compromised. As of now, it is known that this is the cause of Progeria itself; however, neither doctors nor scientist can determine what this mutation has to do with the aging-like deformities of Progeria (Kugler).

Inone of these steps, after prelamin A is made in the cytoplasm, an enzyme called farnesyl transferase attaches a farnesyl functional group to its carboxyl-terminus. The farnesylated prelamin A is then transported through a nuclear pore to the interior of the nucleus. The farnesyl group allows prelamin A to attach temporarily to the nuclear rim. Once the protein is attached, it is cleaved by a protease, thereby removing the farnesyl group along with a few adjacent amino acids. Failure to remove this farnesyl group permanently affixes the protein to the nuclear rim. After cleavage by the protease, prelamin A is referred to as lamin A. Lamin A, along with lamin B and lamin C, makes up the nuclear lamina, which provides structural support to the

In conclusion, progeria is a deadly genetic disease characterised by premature aging. Caused by a chance occurrence in the egg or sperm, families have no warning until symptoms manifest around the age of two. Though there is treatment for the disease, there is no cure. Donating your time or money to help progeria patients is a worthy cause. Hopefully, in the future a cure will be found and progeria will not affect children around the

Progeria, also known as Hutchinson Gilford Progeria Syndrome, and Progeria syndrome, is an extremely rare genetic disease wherein symptoms resembling aspects of aging are manifested at a very early age. The Progeria come from the Greek words “pro” meaning “before” and “gēras” meaning “old age”. The disorder has a very low incident rate, occurring in an estimated 1 per 8 million live births. Those born with Progeria typically live to their mid teens and early twenties. It is a genetic condition that occurs as a new mutation, and is rarely inherited. Although the term Progeria applies strictly to all diseases characterized by premature aging symptoms, and is often used as

Obviously, there's some process that's accelerated" (The Connection). In children with Progeria, fatty deposits of substances, also known as plaque, build up in the inner lining of the artery. This plaque can grow so significantly that the blood flow through the artery is reduced. If the blockage occurs to an artery that leads into the heart, it causes a heart attack. If the blockage occurs to an artery that leads into the brain, it causes a stroke. This is how children with Progeria eventually lose to the disease (The Connection).

The LMNA gene was first mapped using in situ hybridization. The gene was detected using clone LA-6, while the hybridization signals were detected using rhodamine-anti-digoxigenin. The samples were analyzed and photographed using a fluorescence microscope. Metaphase figures obtained from the photographs were observed to determine the amount of figures that probed for LMNA. The results showed that 90% of the metaphase figures probed for lamin A/C (Wydner et al. 1996). After analyzing the bands, LMNA was localized to chromosome 1q21.3, giving the chromosomal position of the LMNA gene.

Lamin A helps sustain the normal structure of a cell’s nucleus, which contains our genetic information. In Progeria, this protein takes on an abnormal toxic form called “Progerin”. Many cells in the body make this progerin protein in small amounts, including normal healthy individuals. It’s thought that some characteristics of normal aging can be the result of this gradual buildup of progerin over a person’s lifetime. Progerin can’t be properly processed by the cell and will build up inside the cell’s nucleus, eventually causing the cell to become deformed or collapse (Figure 2).

that results in a loss of the amino acid. The deletion prevents the Condon for

Imagine the possibility of eliminating serious genetic diseases from the world. Imagine the idea of treating, preventing or even curing diseases that are yet to be cured. Imagine the feeling of being given improved health and a prolonged lifespan. This can all be accomplished with the aide of genetic engineering. Human genetic engineering refers to the process of directly manipulating human DNA to produce wanted results. DNA is a simple but very complex chemical that has the power to change the world and has begun to do so already. Many opponents to gene therapy fail to realize that genetic engineering has great potential to become very important in the biomedical industry. Though controversy exists regarding the ethics of human genetic engineering, it can produce numerous benefits, which outweigh its disadvantages and side effects; therefore, scientists should be able to manipulate the human genome for the purpose of helping people with serious medical conditions.

A genetic mishap's ability to fast forward the process of aging is a scientific anomaly. Since Kindergarten, we have been taught of life's cycle. You are born, you become a toddler, child, teen, adult, have a midlife crisis, get old and wrinkley, and then you die. However, Progeria, with its one-gene-abnormality compresses all eight of those stages into thirteen years. What does this

Progeria is a fatal genetic condition characterized by an appearance of accelerated aging children. There are different types of Progeria but the classic type is Hutchinson-Gilford Progeria Syndrome. Progeria means “prematurely old.” The scientific name for the genetic mutation is Hutchinson-Gilford syndrome, but is known as Progeria or HGPS. HGPS is caused by a mutation of the LMNA gene. The LMNA gene produces the Lamin A protein, which holds the nucleus together, Researchers say that Lamin A protein makes the nucleus unstable which leads to aging in Progeria. The symptoms of Progeria in the skin are wrinkles or dryness. Some common symptoms of Progeria are hair loss, delayed tooth development, enlarged head, high-pitched voice, loss of muscle,

Proteus syndrome (PrSy) (OMIM:176920) is a disorder characterized by asymmetric overgrowth of the parts of the body :cerebriform connective tissue nevi; epidermal nevi; vascular malformations; and dysregulated adipose tissue. Its etiology is unknown ,this leading to frequently misdiagnosed of this disorder (Biesecker, 2005).

Progeria is a rare genetic disease that happens 1 in 20 million births. Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome. The LMNA gene provides instructions for making a protein called lamin A. This protein plays an important role in determining the shape of the nucleus within