Hutchinson Gilford Progeria Research Paper

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.

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.

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

The chance of having a baby with Progeria is about 1 in 4 – 8 million (“Progeria 101/FAQ"). That means that there are approximately 200-250 people diagnosed with Progeria in the world at any point in time (Progeria 101/FAQ"). Sam G. Berns was among that small amount until he passed away early this year, on January 14th, from complications of Progeria at the age of seventeen. He was an intelligent junior who attended Foxboro High School in Foxboro, Massachusetts. During his life, he reached the level of Eagle Scout in Boy Scouts, was a percussion section leader in his high school band, spoke at two TED conferences, and was interviewed on national television (ABC and NPR). His hometown is a mere 10 miles from my own, causing me to learn

Hutchinson-Gilford Progeria Syndrome (HGPS) affects approximately 1 in 4-8 million newborns. It is characterized by rapid aging, but no symptoms are seen at birth. Within a year, infected children start showing symptoms such as a receding jaw, pointy nose, partial to total hair loss (alopecia), fat loss, bone disfigurements, a short stature and skin problems (Pollex 2004). The disease progresses with time, and eventually leads to death at an average age of about 13 years. Death is usually caused by some form of cardiovascular disease, usually induced by atherosclerosis (Wuyts et al. 2005). Most cases of HGPS are due to de novo autosomal dominant point mutations in the lamin A/C gene (LMNA). There are some reported cases suggesting autosomal recessive inheritance, but further testing needs to be performed.

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).

Progeria is a disease of children that produces rapid aging. The exact cause of progeria is

It is a known fact that all measures of physiological function decline in human aging. While genetics certainly play a role in the declining of physiological function with age, it can be argued that a fundamental part of aging can be reflected by chemical processes resulting in the appearance of harmful side products of the normal metabolism over time. When enzymes speed up reactions it is harder to slow them down. At the same time side reactions are constantly occurring and more and more unwanted side products are continuously being formed.

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)

Within the last century, and even merely in the past decade, incredible advancements in technology have allowed modern medicine to rapidly progress to extraordinary levels, leaving scientists with unprecedented understanding of the human body, and of the aging process especially. While the field of gerontology has flourished as a result and knowledge of physiological changes in the aging body increased, scientists still only have a some-what fundamental understanding of the normal aging brain, and even less of abnormal age-related changes in the brain.

Hutchinson-Gilford progeria syndrome is a very rare genetic disorder that causes the affected individuals to appear older than what they are. Individuals are able to be affected by this disorder as earlier as a their first few months of life. There have been reported cases of infection seen in the fetus. Characteristics of progeria include limited growth such as short stature and low body weight, full body hair loss, and facial features that resemble an aged person. This genetic disorder can lead to other health complications such as degeneration of bone mass and tissue, scleroderma, kidney failure, loss of eye sight, atherosclerosis, and severe cardiovascular problems. There is a genetic test to diagnosis the disorder at a younger age called HGPS. Currently, there is no cure or treatment for the disease. However, patients can undergo certain surgeries such as

He goes into detail about the birthmark relating to the disease. It is caused by a “facial cutaneous venous dilation, also referred to as a nevus flammeus or port-wine stain” (Takeoka, 1994). Statistics shows that 96% of patients diagnosed with Sturge-Weber Syndrome have a visible stain at birth. The mark caused by venous dilation can appear as one large birthmark or several patches along the face. Not only does he talk about the facial aspects of the disease, but also the neurological part as well. Leptomeningeal angiomas are “demonstrated by structural neuroimaging that may be unilateral or bilateral; unilateral angiomas are more common” ( Takeoka, 1994). Depending on the location of leptomeningeal angiomas, the neurological effects can vary. They are usually located in the back of the brain in the occipital region that is on the same side of the port-wine birthmark. Some of the symptoms that involves leptomeningeal angiomas includes seizures (most common starting at the age of one), focal deficits (that can include hemianopsia and hemiparesis), and developmental disorders (“developmental delay, learning disorders, and mental retardation/intellectual disability; more common when angiomas are bilateral” (Takeoka, 1994)). Another abnormality caused by the disease is an increased

This lamin acid is called progerin. Progerin produces a poorly structured nuclear lamin that does not allow for molecules to enter and leave the nucleus properly. This can makes a build up of progerin inside the nucleus that causes the nucleus to malfunction and die prematurely (LMNA, 2013). This is what causes the childhood onset of extreme aging that is seen in progeria patients. The quickened pace of cell mortality causes physical changes in the patient that is seen in the

Progeria is a rare, fatal, genetic condition that comes from the Greek word progeros meaning prematurely old. In the greek language, the word ‘pro’ means before and the word ‘geras’ means old age. Another name for progeria is Hutchinson-Gilford Progeria Syndrome. Hutchinson-Gilford Progeria Syndrome (HGPS) was first described in 1886 by Dr. Jonathan Hutchinson and also in 1897 by Dr. Hastings Gilford in 1897 – both in England.