Hutchinson Gilford Progeria Syndrome ( Hgps ) Essay

Progeria is one of the least known genetic disorders. There are two types of Progeria, the only difference being the age group that it affects. The Hutchinson-Gilford Progeria Syndrome is commonly called Childhood Progeria. The second type of Progeria is Werner’s Syndrome, which is the adult form of Progeria. What basically happens in this disorder is that age is accelerated seven times faster than that of a normal person. For example, for Hutchinson-Gilford Progeria Syndrome, a child could look like he is fifty when he is actually five years old. A twenty year old with Werner’s Syndrome could look similar to a sixty or seventy year old person. There is, even now, not much information known about this genetic disorder because

After a while of searching about progeria, we have found that there are two types of progeria Hutchison-Gilford and Werner Syndrome. They both have the same mutation and symptoms, but they differ in the time the mutation occurs, but still, there is not any specific cure for it yet. Also, we have found that progeria is not related to family disorders’ history like other mutations. The mutation actually happens randomly at a rate of one of four to eight million people.

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.

My gene is located at chromosome 9 on the long (q) arm at position 34, 9q34.

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.

A permanent change in a gene that can be passed on to children. The rare, early-onset familial

Marfan syndrome is a primarily an autosomal dominant disorder that affects 1 in 5000 people worldwide. Marfan syndrome is connective tissue disorder that results in a mutation in the Fibrillin 1 gene. The life expectancy of an individual with Marfan syndrome is close to normal with early detection, but Marfan syndrome still remains underestimated due in large part to characteristics similarities that are common in general public. This is compounded by the 25 percent of individuals with a new gene mutation on Fibrillin 1. It is imperative that nurses have a greater understanding of Marfan syndrome in order to facilitate a genetic referral for an early and accurate Marfan syndrome diagnosis. This should include the mechanism of how this

Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare, fatal genetic condition that is characterized by premature aging in children. Its name is derived from the Greek and means “prematurely old.” There are different forms of Progeria, but we will be looking at the classic form that was named after the doctors who first discovered it, Dr. Jonathon Hutchinson in 1886 and Dr. Hastings Gilford in 1897.

unknown, although a hereditary component may be involved. Progeria results in rapid aging of children,

Hutchinson Gilford Syndrome or otherwise commonly known as Progeria; is a fatal disease. Sadly, death occurs in every case. This disease is a fast spreading disease in the body, it affects the body almost instantaneously.This disease is a rapid aging disorder caused by a LMNA anomaly. This anomaly release progerin, a mutant lamin. The lamin A/C is the official name of the gene more widely known as LMNA. The gene gives out a designated list of tasks to making different proteins called lamins. The infected cells show a decrease in heterochromatin, a increased amount a deoxyribonucleic acid, and cell cycle changes. Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare hereditary disease that affects the skin, musculoskeletal system, and vasculature. HGPS is characterized by signs of premature aging(Kara N Shah,HGPS, MedScape)

They went to Washington to get money and help from Congress. While there, they got lucky and met Dr. Francis S. Collins and his wife Diane Baker. They agreed to help Sam and his family. They started at Chromosome 1 for answers. Dr. Brown already treated twin boys with troublesome chromosomes. The chromosomes split, turned over, and reattached themselves. This made them find flaws in skin cells. They narrowed it down to a specific spot on the chromosome. Next, they went online to find what genes were in that spot. They realized it was lamin A. This protein can sometimes lead to rare conditions and other problems. The researchers discussed the results together and tested patients. They came to the conclusion that the lamin A was the problem and named the protein progerin. They looked through reports and realized the protein was found in one of Collins’s own patients, Meg Casey. Collins realized she did not have progeria after all. She had mandibuloacral dysplasia

INTRODUCTION: Stickler syndrome was first reported in the medical genetics in 1965 by Gumnar Stickler et.Al who called the disease

The LMNA gene produces two major proteins called lamin A and lamin C and is localized at 1q22. The two proteins are structural proteins found in the nuclear envelope in majority body cells and surrounds and provides support to nucleus. The mutation is autosomal recessive and rarely inherited due to affected individuals rarely living long enough to reproduce. The point mutation causes the replacement of the nucleotide cytosine with the nucleotide thymine, which mutates the recognition site the the enzyme uses to cleave the prelamin A to lamin A. A splice site is activated within the lamin A gene and generates progerin, an alternate form of lamin A with the deletion of 50 amino acids at the C-terminal. Lamin A is unable to form which leads to a build up of prelamin A on the nuclear membrane. The build up of prelamin A causes nuclear blebbing, an abnormal shape of the cell and a characteristic of

McCune-Albright syndrome (MAS) is a disorder caused by a non-inherited mutation of GNAS1 gene. Clinical manifestations of the disorder include one or more of the following: (1) polyostotic fibrous dysplasia (PFD), (2) café-au-lait skin pigmentation, and (3) endocrine hyperfunction, usually early puberty in girls but also may include other endocrine abnormalities like pituitary gigantism and Cushing syndrome. It is a rare disease with estimated prevalence between 1/100,000 and 1/1,000,000. Prognosis is good if it is diagnosed and treated promptly. Most mortality is associated with PFD. Diagnosis may include hormone level monitoring, imaging and GNAS1 genetic testing. Treatment is dictated by the tissues

Hutchinson-Gilford progeria syndrome is a genetic disorder that causes the appearance of young children to intensely and rapidly age and have illnesses that are typically associated with the elderly. Progeria is caused by a mutated gene called the LMNA and this gene produces a protein called lamin-a. Lamin-a is an important protein because it is what’s responsible for creating the shapes of the nucleus in cells. It’s also responsible for supporting the nuclear envelope, which is the membrane that surrounds the nucleus. Progeria is caused because of the creation of an abnormal version of the lamin-a protein.