Gilford Progeria Syndrome

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).

Once called the “leprechaun’s disease”, Hutchinson-Gilford Progeria Syndrome was first described in 1886 by the English surgeon Jonathan Hutchinson and by Hastings Gilford in 1904. The main reason why it took so long to find the gene for Childhood Progeria is that it only affects about one baby in every four million to eight million in the world.

Progeria is so unpopulated disease since it is so harmful but there are not many people who know it and there are not many kinds of research about it. Progeria has no specific cure yet and that is the reason that makes progeria so dangerous.

Hutchinson-Gilford Progeria syndrome, also known as HGPS, or Progeria, is a very rare genetic disease caused by a mutation in the cell. In 1886, Jonathan Hutchinson first reported case of a 3 ½ year old boy who had the appearance of an old man. In 1897 Hastings Gilford reported a second case with similar features. However, this mystery disease didn’t have a name until 1904, when it was named after the two men. People who have HGPS usually star showing symptoms by the age of 2, and only live to be a teen-mid-20s.

Some ways to detect Progeria are genetic tests of the patient’s blood and clinical exams. Furthermore, the major signs begin developing when the child is around eighteen to twenty-four months old and he will experience accelerated aging even though he was born looking normal. One major symptom is hair loss. Patients are born with hair texture and color, but around six months to two years, the hair begins to fall out. Then, from two to three years, they are usually bald, but might have some thin, light hair. Loss of eyelashes and eyebrows are also experienced. Along with hair loss, these children grow slowly resulting in a shrunken physique and minimal weight gain. For males, their approximate height and weight are 40 inches and 25 pounds; but females are about 32 inches and 20 pounds. In When Good Things Happen to Bad People, doctors have stated these kids will "grow to be very short," and "would never grow much beyond three feet."( Kusher 1-2) Moreover, there are distinctive physical traits in the face and body. "By the second year of life, there is also under development (hypoplasia) of the facial bones and the lower jaw." ("Hutchinson-Gilford Progeria") Also, "the face appears disproportionately small in comparison to the head, and bones of the front and the sides of the skull (cranium) are unusually prominent." ("Hutchinson-Gilford Progeria") Some other characteristics observed in the face are a thin

Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS) is an extremely rare genetic disorder where symptoms resembling aspects of aging are displayed at a very early age (Progeria 101). A genetic disease is an illness caused by one or more abnormalities in the genome, especially a condition that is congenital (present from birth). Genetic diseases are rare and may or may not be heritable. There are thousands of extremely rare genetic diseases, one being Progeria. Progeria affects its victims and their families more than physically; it takes a toll on the mental and emotional state of mind.

In, Hutchinson-Gilford Progeria syndrome: Substance from broccoli can moderate defects, the author discusses an interesting new discovery made by scientists. Apparently a substance found in broccoli has been shown to help patients diagnosed with HGPS, or Hutchinson-Gilford Progeria syndrome reactivate protein breakdown, which, in reaction, reduces disease related-defects caused by HGPS. Patients with HGPS have a protein known as progerin, which is not functional but is synthesized inside the body. This causes the cells to age prematurely. This, in turn, causes patients to suffer diseases common with the elderly, like atherosclerosis, heart attacks, and strokes. While researching this disease, scientists found that even healthy cells carry progerin,

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

In 1886, the first case of Progeria was diagnosed by Dr. Jonathan Hutchinson. Progeria is a pre-mature aging system which is both rare and fatal. He began documenting features of a six year old boy who had symptoms of hair loss and atrophy of skin. Then, in 1897, Dr. Hastings Gilford pronounced Progeria as a clinical entity. The name Progeria comes from the Greek term “progeros" meaning, “prematurely old”. Virtually nothing was known about Progeria 30 years ago. Since it is an extremely rare disease, research didn’t begin until the 1990’s. This very rare disease occurs during childhood and is characterized by dramatic, premature aging. Hutchinson-Gilford progeria syndrome (HGPS) is the most severe form of the disease. Currently, the condition

Affecting 1 in every 4-8 million people worldwide, Hutchinson-Gilford Progeria syndrome is a rare and fatal genetic condition characterized by the appearance of rapid aging in children. It affects both sexes and all races equally. It is caused by a mutation in the gene called LMNA, which produces the lamin A protein, a structural scaffold that holds the nucleus of a cell together. The abnormal form of the lamin A is called progerin, and it causes the nucleus to be unstable. Progeria is an autosomal dominant disorder; however, in almost all cases it occurs as a spontaneous mutation. It is a point mutation, meaning it’s just a one letter typo.

The word Progeria comes from the Greek word “progeros” meaning prematurely old. Progeria is a rare genetic disorder that causes premature aging in children. This premature aging goes unnoticed until the first year of a child’s life. Although one with Progeria is as mentally capable as any other, a child with Progeria experiences a dramatic aging process both internally and externally. (“About Progeria”, 2013)

Progeria, or Hutchinson-Gilford progeria syndrome, was founded by Jonathan Hutchinson and Hastings Guilford in England in 1886. Progeria is a rare genetic disorder that is found in children who show a rapid growth in age (Sarkar & Shinton, 2001). At first, the child may seem normal at birth, but in the beginning of the first two years the child will start to show a rapid increase of the symptoms of progeria. The main cause for progeria is heart stroke or problems. A child with progeria can live up to 13 years; however some die younger and others die after 20 years-old or longer. Progeria has many symptoms that are shown in a child’s first year of life such as hair loss; slow growth in height and weight; bone changes; and thinning, spotty, wrinkled spots. Progeria shares some similarities and differences between the normal process of aging (Mayo Clinic, 2014). In progeria, we tend to see wrinkles develop

The Progeria Research Foundation was founded by Dr. Leslie gordon and Dr. Scott Berns who found out their son Sam Berns was diagnosed with Progeria just shy of his second birthday. It was then when these two doctors who never heard of the disease either, were informed and started doing research on behalf of their son, Sam. They quickly found out that the condition was so rare there was no where for the victims to go, no medical help, no place for parents of the children to console and no source of funding for researchers who were trying to research Progeria. This lack of information that had desperately became reality for this doctoral family became the fuel behind their inspiration to change the lack of funding, support and awareness.

Progeria is a very rare fatal genetic condition of premature or accelerated aging in children. Symptoms are unrecognizable at birth, but in the first and next years that follows, bird-like facial features, enlarged skull, congenital hair and fat loss, dwarfism, growth failure, hearing loss, joint stiffness, dental crowding and cardiovascular diseases, characterization of the disease, will grow evident. There is physical manifestation alone. Intellect usually remains normal. Although genetic, it is not hereditary. It is “sporadic autosomal dominant” mutation. Both genders are vulnerable to this condition, and the average life span is 13 years. Common cause of death among patients with Progeria is atherosclerosis or heart disease.

Keeping in mind that mice have been observed to have increased lifespan due to their treatment with telomerase, such method of life extension is currently not feasible with humans. This is due to the fact that treating humans with human telomerase leads to a higher probability of having cancer. Thus, other ways of extending lifespan are being developed, one way in particular being through regenerative medicine or regenerative therapies.