Progeri A Little Known Progressive Genetic Disorder

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

Genetics determine the traits an individual will inherit from their parents. In society today, the role of genetics is crucial; they decide ones physical appearance as well as their personality. However, if there is a mutation located in one of the genes that a child receives it is very likely a deformity will be present. A rare yet fatal defect from a gene mutation such as this is Progeria. This disorder is an unfortunate one that may occur in two forms, either Hutchison-Gilford Progeria or Werner syndrome. Not only do they affect the bone structure and appearance of the child, but they substantially shorten their life spans.

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.

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

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

The patient population is the preterm babies that are less than 37 weeks’ and weight

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.

The purpose of this paper is to discuss the effects of the disorder and how genetics and biochemistry work together to create this

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).

Lonafarnib, a type of farnesyltransferase inhibitor (FTI) originally developed to treat cancer, has proven effective for Progeria. Every child showing improvement in one or more of four ways: gaining additional weight, better hearing, improved bone structure and/or, most importantly, increased flexibility of blood vessels. Results of the study, which was funded and coordinated by The Progeria Research Foundation, were published September 24, 2012 in Proceedings of the National Academy of Sciences(no author, first treatment

Jonathan Hutchinson in 1886, and eleven years later by Dr. Hastings Gilford, using the two names the disease got its first name Hutchinson Gilford syndrome. Both doctors stating the scene of pre-matured kids. Currently humans are the most discussed primary organism to be affected by Progeria. As said in the beginning, Progeria is extremely rare, so rare that approximately only one in four to eight million newborns get it. With those odds said, it approximated that only 200-250 kids worldwide have this condition. Now parents usually don’t pass down progeria to their children, and both boys and girls have equal chances of getting this disease. In the race to help ease/cure the effects of progeria, there was an European clinical trials, created mice to model the effects of progeria, they did this by injecting the genetic mutation G608G, which is the genetic mutation responsible for progeria in humans with progeria. After 3 weeks were over many of the mice had started to show the symptoms of progeria, such as weight loss, growth defects, and cardiovascular and metabolic anomalies. These mice were later on, used to find a “mutation-targeted treatment”. With the new treatment developed, the Europeans were able to increase the mice’s lifespan from 155 days to 190 days, adding a stunning 35 days more to the mice’s lives. One of the major impacts that this disease, was made by a 17 year old boy named Sam Burns, he became increasingly popular

Due to the bodies inability to create the enzymes, the patient experiences a buildup of ganglioside GM2, its derivative GA2, glopside, and oligosaccharides ultimately leading to the wrecking of the central nervous system and then death. In a healthy baby, the enzyme would convert the ganglioside into a non-toxic. The three stages of Sandhoff disease are infantile form, juvenile form, and adult form, clearly determined by the age category in which these symptoms present themselves. Placement of the mutation, specifically the codons on the 14 exons in the HEXB gene inscribed in chromosome 5 of the genome, decide the form, and thus the severity of the disease. Moreover, the infantile and juvenile form are observed to be a variation on exon 1207V pertaining to the father, along with a 16 base pair cancellation from the mother seen in up to 5 exons. Symptoms in the infantile form usually appear within six months of birth and the patient can be expected to die within three years, usually from a respiratory infection. Infantile form is the most severe, while juvenile and adult forms are rare. The symptoms that will arise during the infantile form are: loss of muscle control and movement, hearing loss, blindness, seizures, spasticity, macrephaly, red spots in the eye, respiratory infections, organomegaly, doll-like appearance, and myoclonus. Since it is hereditary, each parent must be a carrier of the gene, resulting in a 25% chance that the child will inherit the disease. The juvenile form begins with symptoms from ages three to ten, with the child living to be around 15. Symptoms for the juvenile form include: autism, ataxia, loss of motor skills, spasticity, and various learning disorders.

Now that scientists know that progeria is usually caused by a change of one letter in the billions of letters in DNA, that change can be seen using a genetic testing. During the genetic sequencing, the gene is “decoded” and its sequence is determined letter by letter (www.progeriaresearch.org). With only sixty-eight people reported in the world with this disease, progeria is caused by a change in the DNA in the gene called LMNA. The LMNA gene produces a protein called Lamin A, which structure holds the nucleus of a cell together. Researchers came to the belief that with the defective Lamin A protein, it makes the nucleus unstable leading to the rapid aging.