Hutchinson Gilford Progeria Research Paper

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

It is caused from a deficiency of certain chemical messengers in the brain. It is found through genetics

Obviously, there's some process that's accelerated" (The Connection). In children with Progeria, fatty deposits of substances, also known as plaque, build up in the inner lining of the artery. This plaque can grow so significantly that the blood flow through the artery is reduced. If the blockage occurs to an artery that leads into the heart, it causes a heart attack. If the blockage occurs to an artery that leads into the brain, it causes a stroke. This is how children with Progeria eventually lose to the disease (The Connection).

Piriformis syndrome is something that runners should be aware of. If you're a long distance runner, or know many runners, you will likely hear of it, or experience it. Read on for important information on what piriformis syndrome is, how to prevent it, and how to treat it if you already have it.

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.

People who suffer from Down Syndrome tend to be at larger risk for early-onset because they tend to age faster. The early-onset form appears to be traced back to defect in a specific area of a patient 's DNA: chromosome 14.Trisomy is when an extra copy of a chromosome is present in the cell nuclei. This later causes developmental abnormalities. Myoclonus is the form of muscle spasm and twitching which is more common is this disorder. The inheritance pattern of the late and early-onset Alzheimer disease is still unknown. "People who inherit one copy of the APOE e4 allele have an increased chance of developing the disease; those who inherit two copies of the allele are at even greater risk" (Steve).

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)

Fabry Disease occurs due to a disorder in the lysosomes. Lysosomes typically serve as recycling centers within cells; they contain enzymes to digest several different molecules. In Fabry Disease, the affected individual has a mutation in the GLA gene. The GLA gene provides code to produce alpha-galactosidase A. Alpha-galactosidase A is an active enzyme in lysosomes to break down globotriaosylceramide, a fat consisting three sugars attached to a fatty substance. The mutation in the GLA gene can cause an absence or decrease in the amount of alpha-galactosidase A produced. This change in the amount of enzyme produced prevents breakdown of the fat effectively and the fat begins to build up in excess inside the cells. The accumulation of globotriaosylceramide then damages cells and leads to the symptoms seen in Fabry Disease.

In the Article Common Genetic Disease Linked to Father’s Age scientist from the University of Southern California observed new cases involving the Noonan Syndrome. In their study, they noticed that more cases of this disease are becoming more common in older men. Noonan Syndrome, formally heard of as the Turner-like Syndrome is a genetic mutation that affects many areas of the body. According to the article, “The disease can cause facial abnormalities, short stature, heart defects, intellectual disability and sometimes blood cancers.” More importantly, What is the cause of this disease? And, Why is it becoming more common? In some cases, an affected person inherits the mutation from its parent. However, scientist have found that in other

Imagine you are a 78-year-old man. A beloved professor from Brandeis University. Day by day, take notice of the increased difficulty of breathing, more so than the usual out-of-breath feeling from climbing a flight of stairs. About two or three weeks later, you start to feel muscles in your body cramping up, even while partaking in slight activity. After various testing, your results come back you have ALS, short for Amyotrophic lateral sclerosis.

Krabbe disease is a disorder in the nervous system in which the patient becomes unable to function correctly. This enzyme deficiency impairs the growth and maintenance of myelin, the protective covering around certain nerve cells that ensures the rapid transmission of nerve impulses. A large cell of a primary germ is found clustered together in the space between the skull and the brain causing it to destroy the cells. Although, this disease generally directed at infants it may also develop in an older child or adult.

Hutchinson-Gilford Progeria Syndrome is a condition in a child that has rapid growth at an early stage of childhood. The accelerating age starts in early infancy, where the child will grow slower than other children, but normal when first born. Usually the "failure to thrive" happens in the first year after being born. This condition does not stop the development of motor skills, like sitting, standing, and walking. The child will also have a normal immune system that helps with healing normally after being sick or getting scrapes/ cuts. This condition over time is life threatening to children who have been diagnosed with the progeria syndrome. Severe hardening of arteries occurs in the younger years of children, causing them to have heart attacks and strokes. Deaths have been between ages six and twenty years, the life span is usually 14.6 years after being diagnosed with the syndrome.

Batten disease is also a fatal hereditary disorder of the central nervous system occurring in childhood. The symptoms include formation of lipopigments in body tissues and early symptoms include personality and behavior changes, clumsiness or stumbling. As the disease advances children may experience mental impairment, loss of sight and motor skills, become blind and bedridden. Lafora body disease is a rare genetic disorder responsible for causing progressive dementia and movement problems. The symptoms arise in the early childhood or late teens and are characterized by the presence of Lafora bodies in brain, skin, muscles and liver and death of child within 2-10 years.

Mutations in the POLG gene are related with several mitochondrial diseases, plus Alpers' disease, ataxia-neuropathy disorders, and dominant and recessive types of progressive external ophthalmalgia. An example of the effects of Alpers was an infant was born with a normal birth with no complications. His weight was 8 pounds, the normal weight for a newborn baby. Everything was going well his first 18 months; he was crawling, walking, and even spoke at 12 months. But when he around 19 months old, he experienced anorexia, diarrhea, and vomiting. This was due to lethargy and being hypertonic. He had elevations in liver transaminases and at 30 months developed seizures. He was unable to talk and lost ability to walk at 38 months. After several more

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.