Progeria is a fatal, genetic disorder that is characterized by the appearance of accelerated aging in children. It was first described in England in 1886 by Doctor Jonathan Hutchinson and then again in 1897 by Doctor Hastings Gilford. It is extremely rare and only affects one in four to eight million newborns every year. There are estimated to be about only 200-250 children living with this disease. In addition, it affects both males and females, and children of all races (“Progeria 101/FAQ”). Throughout this paper, a brief, yet informative outline will be given about Progeria. The causes, symptoms, diagnosis, treatments, aging, pop culture, and research that is being done will also be discussed.
To begin with, Progeria is caused by a single gene mutation in the gene, lamin A (LMNA). Lamin A is responsible for making a protein that is necessary for holding the center of a cell together- the nucleus (Mayo Clinic staff). The abnormal lamin A protein is called progerin and makes the nucleus become unstable. This cellular instability leads to the process of premature aging. In addition, it has been discovered that Progeria isn’t passed down in families unlike many other genetic mutations. The change in the gene is an occurrence that happens only by chance in which researchers believe affects a single sperm or egg just before conception. However, for parents that have already had a child with Progeria, they are more likely to have a second children with the disease. This is because of a condition called mosaicism where a parent has the genetic mutation for Progeria in a very small proportion of their cells, but they do not actually have Progeria (“Progeria101/FAQ”).
Moreover, a child with Progeria typically will look normal at birth...
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...at was used in the first trial was named the first-ever treatment for Progeria (“Progeria 101/faq”).
In conclusion, Hutchinson-Gilford Progeria Syndrome or Progeria, is a rare and fatal disease that occurs in children. It is caused from a random mutation in the gene, lamin A which ultimately causes the nucleus to become unstable. Children with Progeria die at the average age of thirteen and may suffer from multiple complications such as the hardening of arteries, stiff joints, hip dislocations, heart attacks, or strokes. Although death is inevitable, these children are extremely lovable and live normal lives just like any other child would, despite their physical disability. Currently, the Progeria Research Foundation is trying to come up with multiple treatments and hopefully a cure in order to rid the world and those are suffering from this devastating disease.
Sam Berns or Simpson Gordon Bern’s was born October 23, 1996, and died January 10, 2014.He was born to Dr. Leslie Gordon and Dr. Scott Bern.Who found out that their son Sam has Hutchinson-Gilford Progeria Syndrome. Sam was twenty-two months old then. when
However, in a person with PWS, the 15th chromosome has been given 2 genes from the mother, and none from the father. This is called maternal UPD ( uni-parent disomy) in which 2 copies of the maternal chromosome are inherited with no paternal contribution. Despite the presence of 2 intact chromosomes, there is a functional abnormality in the imprinting that may lead to the absence of gene expression from the paternally donated chromosome, resulting in the PWS phenotype (physical trait) that is common in persons with PWS.
Spinal Muscular Atrophy affects about 8 out of every 100,000 live births and also causes death among more babies than any other genetic disease out there. About one in every forty people has this gene in them but may not have SMA so they are a genetic carrier. But in order for a child to have SMA, both parents have to carry the mutated gene and passed it to the child. Therefore this causes the child to have double copies of the abnormal gene. About 1 in 40 men and 1 in 80 women are carriers of the gene.
Waardenburg Syndrome is a group of genetic conditions that can lead to hearing loss and changes in the color of hair, skin, and eyes (Genetics 2013). Cases of Waardenburg Syndrome are not very common. There are different types of symptoms of the syndrome. Waardenburg Syndrome can be inherited either on an autosomal dominant pattern or autosomal recessive pattern (Calendar 2013). The ways of diagnosing Waardenburg Syndrome include certain tests to detect the disorder. While Waardenburg Syndrome cannot be cured, treatments can be given to lessen the effects. Like other diseases, Waardenburg Syndrome has certain symptoms, inheritance patterns, diagnosis and treatments.
Osteoporosis is a condition, in which bones are weak from deterioration, loss of bone mass, and quality-bone strength. Osteoporosis usually triggers postmenopausal women (women who have not had their period for a whole year), or older men and women. Some risks both older men and women endure when experiencing Osteoporosis are decrease of calcium and bone fractures. These symptoms or effects can all be caused by weight loss, smoking, age, ethnicity, genetics, medications, bone structure, and certain diseases that can later on contribute to Osteoporosis, such as rheumatoid arthritis. Osteoporosis may be prevented by going to drug therapy to stop alcoholism and smoking, a sufficient amount of calcium intake, and exercising; such as jogging, walking,
Progeria is hypothesized to be a gene mutation that occurs during the time of conception or shortly after. During pregnancy the mother doesn’t experience any abnormalities or complications indicating a possible problem with the pregnancy. Newborn babies appear normal and on average have a slightly lighter birth weight a...
The human genome is a remarkable system composed of over 3 billion DNA base pairs that encode for the characteristics that makes people distinctly human and unique themselves. Without the genome’s nearly flawless ability to self-replicate the human species would cease to exist. As incredible as this replication methodology is, it is not without its faults. Genetic mutations, though rare and typically harmless, can strike at any time and in various ways. Still, when they do cause harm the effects can be profound and impossible to ignore. Hutchinson-Gilford Progeria Syndrome (HGPS) is an instance where the mutation of just one nucleotide has devastating results. The Mayo Clinic defines progeria as a progressive genetic disorder that causes children to age rapidly, beginning in their first two years of life. This study defines the disease of progeria by outlining symptoms and identifying causes that lead to its diagnosis. In addition, treatment methods and extensive research that give those affected by the disease hope for a brighter future are highlighted.
Fluoxetine (Prozac) was the first of its kind. (Kramlinger, 2001) Fluoxetine first appeared in scientific literature as Lilly 110410 (the hydrochloride form), a selective serotonin uptake inhibitor, in August 15, 1974 issue of, Life Sciences (Wong,... ... middle of paper ... ... el A., (2001).Understanding Drug Interactions. Proffesional Psychology: Research and Practice, Vol.32, No.5, 543-547: American Physiological Association Inc. Sanchez, Connie, & Hyttel, John, (1999).
Young children are usually concerned about getting the latest toy, plenty of play-time, and making friends. However, 1 in every 8 million children experience rapid aging and are typically concerned with issues such as hair loss, thin skin, stiff joints, and heart disease (Gordon). This rare fatal genetic disease is known as Progeria. In the last couple of decades, professionals have brought increased awareness and knowledge to Progeria and its symptoms, genetic cause, history, research, treatment, and support resources available to affected children and their families.
The type of mutation that occurs in Down syndrome is aneuploidy that is the irregular number of chromosomes in a cell. The most common of the three is the trisomy 21 that occurs in about 90% of people with the disorder. In this factor the human is given three copies of the chromosome 21 instead of the common two copies. This occurs due to the complications of the cell division in the process of the egg or sperm. The next case is mosaic which happen when there are inequality of cells with three copies of chromosome 21 and others with the original two copies. Mosaic appears when there is an unexpected cell division after fertilization. The last and the rarest form is translocation and that happens while the chromosome 21 in cell division is broken off and attached to another chromosome. Since the disorder is unexpected there are numerous amounts of risk factors that are possible based on the severity of the person.
U.S. National Library of Medicine, 26 Sept. 2011. Web. The Web. The Web. 19 Nov. 2013.
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Ed. David Zieve. U.S. National Library of Medicine, 26 Feb. 2014. Web. The Web.
During prenatal development, the mother's general health and age is very important. Nutrition, anxiety, and stress are a big part of the physical development during the prenatal stages. Referenced by Eysenck & Schoenthaler (1997) in our text, “A rapidly growing body of evidence reveals that when food sources are short on protein or essential vitamins and minerals during prenatal and early postnatal development, an infant’s physical, socio-emotional, and intellectual development can be compromised” (as cited by Broderick & Blewitt, 2010, p. 56).Genetic and chromosomal problems can begin at conception. Many disorders can be transmitted through the operation of dominant and recessive genes. Most recessive disorders are diagnosed in early childhood. Some genetic disorders include the following: sickle cell disease, hemophilia, night blindness, cystic fibrosis, extra fingers, high blood pressure, and huntington's disease. Chromosomal errors also effect the prenatal development stage. The most common is Down syndrome, in which a child has 3 copies of chromosome 21. The risk of bearing a child with this condition depends on the age of the mother.