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.
HGPS is not a genetic disease that can be passed down through family members, because people who suffer from it don’t live long enough to reproduce, or at least not very often. Those who do have a chance to reproduce usually choose not to, because as much as they want a baby and a normal life, they know that they will be gone soon and don’t want them to have to go through that, or have there be a chance that the baby gets the disease too.
Research shows that only 1 per 8 million births end up having a baby
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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
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).
Hutchinson Gilford Progeria syndrome (HGPS) is a very rare and destructive genetic disorder. It is progressive, causing children to age rapidly beginning 2 years after birth. Children with Progeria usually appear normal at birth, however by 1 year the signs and symptoms of Progeria begin. Symptoms of Progeria include short stature, bulging eyes, micrognathia, disproportion of head to body, alopecia, beaked nose, pathologic bone fractures, hearing loss, photophobia and hypertension. (Alves and others 2014) Progeria’s occurrence is 1 in 4 million to 1 in 8 million live births and males are more frequently affected than females. The average life expectancy for a child with Progeria is about 13. (King 2013) However some with the disease die younger and some live to be 20 years or older. Death in Progeria is primarily caused by heart attacks and atherosclerosis. Atherosclerosis is a disease in which the arteries become hardened. (Bhimji 2011)
Hutchinson Gilford Progeria syndrome (HGPS) is a very rare and destructive genetic disorder. It is progressive, causing children to age rapidly beginning 2 years after birth. Children with Progeria usually appear normal at birth, however by 1 year the signs and symptoms of Progeria begin. Symptoms of Progeria include short stature, bulging eyes, small jaw, disproportion of head to body, alopecia, beaked nose, pathologic bone fractures, hearing loss, photophobia and hypertension. (Alves and others 2014) Progeria’s occurrence is 1 in 4 million to 1 in 8 million live births and males are more frequently affected than females. The average life expectancy for a child with Progeria is about 13. (King 2013) However some with the disease die younger and some live to be 20 years or older. Death in Progeria is primarily caused by heart attacks and atherosclerosis. Atherosclerosis is a disease in which the arteries become hardened. (Bhimji 2011)
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
The disorder affects 1 out of 40,000 newborns (Atlas Genetics). Almost 90% of patients with this disease have a parent with the disease, but the symptoms in the parent can be very different from the symptoms in the child (MedlinePlus). Waardenburg syndrome type 1 (WS1) and type 2 (WS2) are inherited as autosomal dominant traits, which means one copy of the altered gene in each cell is sufficient to cause Waardenburg syndrome (GHR). Manifestations of the disorder may not be present in individuals that inherit the altered gene for the disease. Some cases of the disorder, such as type 3 (WS3) and type 4 (WS4) have an autosomal recessive pattern of inheritance. Type 1 and type 2 of Waardenburg syndrome can also be acquired even when there is no family history of the disorder. The disorder can be caused from new genetic changes that occur spontaneously for unknown reasons. Researches indicate that new sporadic mutations for type 1 of Waardenburg syndrome may be associated with the advanced age of the father. In dominant disorders, a single copy of the gene with the disease that is either received from the mother of father will be expressed in the offspring by dominating the other normal gene, which causes the result in the appearance of the syndrome (Rare
"Of its hereditary nature. When either or both the parents have shown manifestations of the disease ..., one or more of the offspring almost invariably suffer from the disease ... But if by any chance these children go through life without it, the thread is broken and the grandchildren and great-grandchildren of the original shakers may rest assured that they are free from the disease." (Huntington) Huntington’s Disease is a hereditary and progressive
HD is an autosomal dominant disorder which means the mutation is located on just one gene and can be passed on to the offspring from just one parent. The mutation occurs in chromosome 4 on the short arm of the chromosome. At this location on chromosome 4 there are a series of repeated trinucleotides with the sequence cytosine-adenine-guanine (CAG). CAG codes for the amino acid glutamine. Normal HTT genes may have anywhere from 10 to 35 repeats of the CAG trinucleotide, while the mutated gene may have from 36 to 120 repeats. Individuals with 36 to 39 CAG repeats on the 4th chromosome may or may not develop HD, however those with 40 or more repeats of the trinucleotide will almost always develop HD (Walker, 2007). Interestingly individuals with 27 to 35 trinucleotide repeats will not develop the disease but are at risk of passing the HD gene on to their offspring. This occurs because as the gene is passed from generation to generation the CAG repeats become longer in a process known as dynamic mutation (Auer et. Al, 2007). It is suspected that because there is an increased risk of instability in spermatogenesis the subsequent gene passed on to the offspring may differ in length from the parent gene. This makes the chance of a male carrier of the HD gene more likely to pass on the
If the offspring inherits the gene it is guaranteed that they will develop Huntington 's disease at some point in their life time, the disease does not skip generations. The defective gene is not present on either of the sex chromosomes resulting in the disease being independent of gender. This means that male and female offspring will have an equal risk of inheriting the disease. The faulty gene (the HD gene) that is to blame for the development of huntington 's disease is located on chromosome 4 (See Figure 2), it
It is inherited in an autosomal dominant pattern. Anyone that inherits the affected gene will get the disease.
Genetic diseases are passed down through parents and genes. I have an aunt name Katie who has an inherited disease, which she has been living with for sixteen years called TS. Tourette syndrome is one of the most common genetic diseases. Although you never too much here of any one with this disease or do many take it serious, TS is a very serious disorder. Tourette Syndrome is an inherited nervous system disease causing constant movement & unwanted sounds. There has not been any cause of TS, but scientists believe that it’s inherited as a dominant gene. They also found logical evidence that it derived from an abnormal metabolism of one brain chemical called dopamine. TS can cause a abundance of symptoms in different family members as it affects
The genetic disorder I have been researching is Von Hippel-Lindau Syndrome. Von Hippel-Lindau Syndrome (VHL) is an inherited condition linked with the tumors in multiple organs. Organs such as blood vessel tumors of the brain, spinal cord and eye. VHL is passed on from generation to generation. A mutation in the VHL gene gives the person an increased risk of getting this disease. There are many different symptoms of this disorder. Some include difficulty walking and swallowing, headaches, poor coordination, and decreased feeling in the arms, legs, and body.
Hutchinson-Gilford progeria syndrome is a genetic disease which consist of the rapid beginning of aging when you are an infant. This rare affection only affect 1 of 7 millions of newborns. It doesn't have a gender in particular, however, the majority of children with this condition are light skin (97% of patiences). Progeria damage different tissues like bones, muscles, skin, subcutaneous tissue and vessels. This disease do not have a cure so the kids with progeria their average life is between 8-21 years old.
For example, a girl called Hayley Okines was diagnosed with Progeria at two years of age died at age 17. She had the body of a 104 year old person. Also she had limited growth, hair loss, swollen veins and joint abnormalities. These are all symptoms of Progeria. This disease occurs because of the over multiplying of prelamin A, which causes the normal nucleus to become lumpy and uneven. (Picture of Progeria Cell Nucleus) The Genetics Home Reference explains: “This mutation changes a single DNA building block (nucleotide) in the gene. Specifically, the mutation replaces the nucleotide cytosine with the nucleotide thymine...This mutation...refers to the position in the lamin A protein affected by the mutation. The...mutation leads to an abnormal version of the lamin A protein called progerin, which is missing 50 amino acids near one end...” (Anon.,
The most common dermatological characteristics include: loss of eyebrows, sclerodermatous plaques, loss of eyelashes, alopecia, wrinkling of the skin and nail dystrophy (Tsiligiri et al., 2015; Coutinho et al., 2009; Pollex & Heagele, 2004). The most notable dermatological manifestation for those that have HGPS, are loss of subcutaneous fat and prominent scalp veins (Tsiligiri et al., 2015; Pollex & Heagele, 2004; Gordon et al.,
Progeria is not inherited within families, yet it is a gene change that can occur between a single sperm or egg before conception. However, there are two inherited syndromes are similar to progeria that cause rapid growth and can result in death at an early age: Wiedemann-Rautenstrauch syndrome and Werner syndrome. Weidermann-Rautenstrauch syndrome starts in the womb, and shows sign of aging from birth; while Werner syndrome happens in the teens years or early adulthood, and shows signs of premature aging and health conditions that old people usually have such as diabetes (Mayo Clinic, 2014). Werner syndrome is caused by a recessive mutation in the Werner syndrome, RecQ helicase like (WRN) gene. Mutation in the WRN can cause symptoms in humans