Melanie Amento
Professor Post
SC-108-1
April 29, 2013
Progeria
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
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Children who suffer from Progeria are genetically susceptible to premature, progressive heart disease. Nearly all Progeria patients die from heart disease. Heart disease is also one of the leading causes of death globally. Children with Progeria commonly experience cardiovascular events, such as hypertension (high blood pressure), stroke, angina, enlarged heart and heart failure-conditions linked to aging. Experts say that any research into finding a cure for Progeria would probably have results which would benefit adults with diseases linked to aging. 90% of children with Progeria have a mutation on the gene that encodes Lamin A, a protein that holds the nucleus of the cell together. It is believed that the defective Lamin A protein makes the nucleus unstable. This instability seems to lead to the process of premature aging among Progeria patients.
Progeria appears to occur without cause - it is not seen in siblings of affected children. In extremely rare cases more than one child in the same family may have the condition. Experts do not believe that Progera is hereditary. They say it is due to a rare gene change, which happens purely by chance. A non-twin sibling runs the same risk of having Progera as any other child from another family. In about 1 in every 100 cases of HGPS the syndrome is passed down to the next generation within the same family. The health care professional will possibly suspect Progeria if the signs and
The likelihood of close relatives sharing the same recessive alleles is greater than in the general population, raising the risks that a child would be homozygous recessive for a trait.
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.
Progeria is a rare disorder; therefore, the transmission of the disease from parent to offspring is not a likely occurrence. However, when the disease is transmitted both mother and father must carry a mutant gene. If just one parent is carrying a single mutant gene, they will not show any symptoms of Progeria and will not pass it along to their offspring. When both parents carry the gene, their offspring now has a 25% chance of being born with Progeria..
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
No autosomal dominant disorders do not skip generations; they pass on through each generation. If parents have a child, their child will receive the same autosomal dominant disorders that the parents had. And the opposite, if the parent don’t have any autosomal dominant disorders, then the child won’t have
This syndrome is inherited in families in an autosomal dominant manner. Since Marfan syndrome is autosomal dominant, people with this disorder can be either homozygous dominant or heterozygous. This means that people carrying even one copy of the altered gene will have the disorder. Mutations of the FBN1 gene has been linked to the Marfan syndrome, although not everyone who has this mutation develops the disorder.
This syndrome is not very common, because it is a rare condition. Its prevalence is not certain, but the proximate amount is 5 to 10 individuals per million newborns. Research workers appraise that there are approximately 200 to 300 individuals around the world who have this disorder. It is observed with equivalent recurrence in both males and females over all ethnic groups.
One hundred and thirteen children have the mind of an adolescent, but the body of the elderly. (Gordon) These children are dealing with the deadly disease known as Progeria. The main cause of this is a minute genetic mutation, which leads to an abundant amount of symptoms. Progeria does not affect a ubiquitous number of people; however, it still has an impact on the victim and their families. In the beginning stages, the child grows slowly without any weight gain resulting in the appearance of aging. The child's life is also affected due to the symptoms, tests, and treatments they experience. Progeria is a rare ailment in adolescents that stems from a specific genetic abnormality for which there is no current cure, and it dramatically
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).
This disease is genetically inherited and is a dominant characteristic, therefore unfortunately the offspring of a victim has 50% chance of inheriting the disease.
Humans undergo several stages during their lifetime including growth, development, reproduction and senescence. Senescence is defined as the deteriorative biological changes that organisms experience as they age eventually leading to death. These changes include low metabolism, a weak immune system, memory loss, poor vision and loss of hearing. Senescence begins in humans during their post-reproductive years. However, gerontology research has shown that individuals who reproduce late have longer life spans compared to individuals who reproduce early. Nonetheless, it does not indicate that senescence is inevitable. All organisms experience senescence,
Several studies have suggested that PDA occurs in premature babies due to the lungs being underdeveloped and poor metabolizers of prostaglandins. Other risk factors that may be associated with an infant having a PDA is a positive family history of cardiac defects and genetically linked conditions like Down syndrome. Maternal infection with German measles during pregnancy can cause damaging effects to the fetal heart and circulatory system and put the infant at greater risk of acquiring a PDA. Studies have also shown that children born at higher altitudes have an increased susceptibility of having a PDA.
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
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.
In order to better understand aging-associated diseases, it is first necessary to define what aging is. Aging is a complex, multifactorial process of harmful mutations in cells and tissues that are accumulated over time and result in an increased risk of disease and, eventually, death (Tosato, Zamboni, Ferrini, & Cesari, 2007, p. 401). Contrary to the belief that aging can be cured through medical advances, it is scientifically accepted that, while human life expectancy has increased, the human life span has remained largely unchanged for the past 100,000 years (Tosato et al., p. 401). Therefore, future developments in aging research ought to focus on addressing treatment and prevention of major aging-associated diseases that will