Hutchinson Gilford Progeria

In the beginning of the second year, and last half of the first year the children will stop growing and gaining weight which is accompanied by the hair loss. Between the ages of two and three year the classic facial feature of the Progeria begin to show (Hennekam, 2006 pp. 2603-2624).

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 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).

A child with progeria does not show symptoms at birth; however, within the first two years the disease will make itself known. Signs of progeria include growth failure, loss of body fat and hair, aged-looking skin, stiffness of joints, hip dislocation, generalized atherosclerosis (the buildup of fat and cholesterol in the arteries), cardiovascular (heart) disease and stroke. Despite differences in ethnic

90% of children with Progeria have a mutation on the gene that encodes Lamin A, a protein that holds the nucleus of the cell together. It is believed that the defective Lamin A protein makes the nucleus unstable. This instability seems to lead to the process of premature aging among Progeria patients.

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

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).

beginning with growth failure during the first year of life. Progeria is a rare condition but has come into

discoveries is information regarding chromosomal and genetic disorders. Both chromosomal and genetic ailments can have harmful effects on the body. Genetic diseases such as Bloom's Syndrome occur as a result of gene alterations. These gene mutations cause the chromosomes to become unstable, leading to chromosomal breaks, separations and structural repositioning (Freivogel 170). Chromosomal diseases like Charcot-Marie Tooth Disease are also caused by mutations, which are nearly irreversible (Krajewski 232).

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

Hutchinson- Gilford Progeria Syndrome is reported about 1 in 8 million newborns (Parker 16). Hutchinson-Gilford Progeria Syndrome equally affects both sexes and races of children and gives them an appearance of rapid aging (Nordqvist 1). The symptoms of this disease show around eighteen to twenty-four months of

down old age begins when we lack the ability to participate in physical activities because our muscles do not respond at the speed it did in the past. The water content of our tendons lessen, leaving our tissues stiff, it becomes difficult for us to control stress. The heart muscle propels blood at a slower pace towards the body, making us become tired earlier and only capable to recover gradually. The bone’s mineral component lessens and becomes decrepit (Effects of Aging). Worst of all, we ultimately lose our appeal, wrinkles, loss of hair or grey hairs spell out old. These are also characteristics of Progeria, a genetic condition affecting children with physical symptoms indicating untimely old age (Stem Cells: A Fountain of Youth). The

Nuclear Lamina is a mesh like network that lines the nuclear membrane and provides architectural support 2. Lamin proteins are important for cellular structure as well as cellular organization and because of this, functioning lamin proteins are vital in proper expression of genes 1. When mutated, lamin proteins lead to multiple degenerative diseases related to premature aging and diseases like progeria and muscular dystrophy. Although comprehensive research has been done on mutant lamin proteins, the relationship between genotypes and phenotypes are poorly understood 2. This proposal aims to analyze the different genotypic and phenotypic effects by

Throughout history Gigantism and Acromegaly has shown in different nations, tribes, and races. Even though gigantism and acromegaly are both very rare and occurs in approximately 50 out of every 1 million people, both of these conditions are hard for parents to detect when in early ages because growth plates start to open up and children begin to start their growth phase. Gigantism and Acromegaly is a very interesting topic, because this disease causes children/people to grow to be abnormal sizes. These abnormal sizes are usually two standard deviations above normal height. Some adults with Gigantism can reach up to 7 feet or taller within their lifespans. Acromegaly is very similar to gigantism, but it involves the limbs of the body such as

Recent studies show that out of every million about one hundred fifteen to two hundred ninety five people get affected and the numbers are growing every year. Equal chances for male and female getting this disorder. It usually happens in middle age adults between 40 to 45 year olds, but sometimes it happens during childhood. When kids get this disease it is called gigantism instead of acromegaly. In children, gigantism affects the growth plates of the long bones on both ends and it causes expanded development of the long bones. In this manner the children grow in height. Growth plates intertwine after puberty, so the inordinate GH creation does not add to the adults