Progeria essay. The genetic disease progeria, Sample of Essays 2022-10-20
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Progeria is a rare genetic condition characterized by the rapid onset of aging in children. Children with progeria appear normal at birth, but within a few months, they begin to show signs of aging such as hair loss, wrinkled skin, and a thin, pinched face. As they grow older, they experience severe growth failure and develop symptoms similar to those of elderly people, including heart disease, arthritis, and stroke.
The most common form of progeria is called Hutchinson-Gilford Progeria Syndrome (HGPS), which is caused by a mutation in the LMNA gene. This gene provides instructions for making a protein called lamin A, which is important for maintaining the structure of the nucleus, the compartment within cells that contains genetic material. The mutation in the LMNA gene leads to the production of a shortened, abnormal version of lamin A called progerin. This abnormal protein causes damage to the nucleus, leading to the characteristic symptoms of progeria.
Progeria is a rare condition, with only about 200 cases reported worldwide. It is estimated to occur in 1 in every 4 to 8 million live births. It affects both males and females equally and is found in all racial and ethnic groups.
There is currently no cure for progeria, and treatment is mainly supportive and focused on managing symptoms. Children with progeria often have a shortened life expectancy, with most living only into their teenage years or early twenties. However, some children with progeria have lived longer, into their 30s and 40s, with proper medical care and management of symptoms.
Researchers are working on developing treatments for progeria. One promising avenue of research is the use of drugs that target the abnormal progerin protein. In 2015, the FDA approved the use of a drug called lonafarnib for the treatment of progeria. Lonafarnib has been shown to slow the progression of symptoms in children with progeria, although it is not a cure.
In conclusion, progeria is a rare and devastating genetic condition that causes rapid aging in children. While there is currently no cure, research is ongoing to develop treatments to slow the progression of symptoms and improve the quality of life for children with progeria.
In progerin condition, the destruction of a cell can be treasured since that connection occurs and the nucleus is in an abnormal condition. As the normal cells aged, Progerin built up in these cells. Another remedy for the illness is surgery or angioplasty. These chemicals destroy the nerve cells in the brain and the spinal cord. This affects the inside of your body including your organs, heart, lungs, kidneys, blood vessels, brain and joints. Farnesyltransferase inhibitors FTIs refer to medications that hinder an enzyme processes required to create a relation between farnesyl groups and proteins of progerin.
Paterson, in 1922 recorded the cases of two possibly affected brothers, photographs were not published and the diagnosis is not completely certain. Progeria is essentially pre-mature aging. Intellect usually remains normal. . It is diagnosed by physical exams, hearing and eye tests, blood pressure and pulse and comparison of the child's weight and height with those of the same age. It is important that during pregnancy that necessary pregnancy support and care is provided. The catheter allows the doctors to perform surgery on the heart.
Symptoms of Progeria Children diagnosed with progeria mostly develop their initial symptoms at the early months of their lifetime. Scientists are specifically concerned about progeria since the condition may disclose indications regarding the aging processes. A Pronation is the natural movement of the foot that rolls inward when a person walks and runs. Their faces are mostly wrinkled, and have larger head which is not proportional to their body, their face are narrow as well as beak nose. Progeria is a rare genetic disorder that causes premature aging in children.
Progeria: Causes, Symptoms, and Treatments Free Essay Example
They also develop prominent scalp veins, a narrow chest, a protruding abdomen and have possible enlargement of the spleen. The exact cause of progeria is unknown, although a hereditary component may be involved. The shortened term progeria can be used to address any of these disorders but is most often specifically associated with HGPS. The disease occurs approximately in one in eight million births Coppedè, 2013 , and death usually occurs at around the age of 13 Coppedè, 2013. Death is usually caused by some form of cardiovascular disease, usually induced by atherosclerosis Wuyts et al. Genetic Disorders: Hutchinson-Gilford Progeria Syndrome Hutchinson-Gilford Progeria Syndrome HGPS is an extremely rare and mysterious genetic disorder that is characterized by dramatic, premature aging. For example, for Hutchinson-Gilford Progeria Syndrome, a child could look like he is fifty when he is actually five years old.
Hayley went on numerous talk shows and wrote several books to continue raising awareness about Progeria. The children die from the complications of they symptoms that are developed. In this year, Dr. I was intrigued when I first heard about this illness which was unbeknownst to me. Gynecomastia refers to the development of female-quantity breast glands in the male patient. Still, when they do cause harm the effects can be profound and impossible to ignore. .
These proteins aid in many nuclear processes such as chromatin structure, regulation of gene expression, apoptosis, cell cycle regulation, nuclear migration and protein degradation. The outcome, which was gathered by an assessment of electron microscopic which is blinded and a microscopy of immunofluorescence, revealed that deformities due to nucleus could be retreated in mice of transgenic trait articulating progerin. As incredible as this replication methodology is, it is not without its faults. Such illness also have different facial characteristics which can lead to bullying. Both diseases have similar effects: unable to gain weight. The study of Progeria can give us valuable insights into the natural aging process.
Farnesyltransferase FTIs has been suggested but their usage is extremely limited to models of animals. This was as a result of pharmacs, which play a role in blocking protein prenylation, that is, the farnesyl polypeptide relocation to C-terminal cysteine. Progeria has a vast amount of symptoms that the majority of those suffering deal with as well as symptoms that are seen less often. The Progeria Research Foundation PRF was founded in March 1999 by Doctor Leslie Gordon and Doctor Scott Berns to help bring awareness and research Progeria. They have tight wrinkled skin that is aged-looking. Hutchinson-Gilford Progeria Hutchinson-Gilford Progeria Syndrome "Progeria", or "HGPS" is a rare, terminal genetic disease characterized by accelerated aging in children.
Despite the fact that Sam Berns and Lizzie Velasquez are distinct person, they have extremely rare diseases with similar Reflective Journal 4: The Genetics Of Short Sleepers 517 Words 3 Pages populations, depending on the type and severity. There is many support groups to help cope with Progeria. Due to the extreme rarity of Progeria, little research has been done until resent years. By reading this book, much can be learned from the many different infections the author wrote about. Khalifa in1989 described a consanguineous Libyan family in which 2 males and 1 female in 2 sibships related as cousins had seemingly typical Hutchinson-Gilford progeria. At birth the infant looks healthy, but as the infant ages, accelerated aging features begin to appear. These children will often die from old age diseases such as heart attacks, and strokes or related complications.
Affected children appear elderly and suffer from the same ailments and organ failure that one would expect from their grandparents, making progeria at once painfully tragic and diabolically interesting. The cause of the disease is unknown but is thought to be due to a genetic abnormality. A small daily dose of aspirin controls the trait. Children who have it age much faster than normal. The concept of genetic disease has expanded during the last twenty years. Hutchinson, in 1886, and Dr.