Hutchinson-Gilford Progeria Syndrome, also known as “Progeria,” is a genetic disease that causes accelerating symptoms of aging in children (Progeria: Hutchinson-Gilford Progeria, 2007). Though extremely rare, this devastating disease is universally fatal. The purpose of this paper is to examine the causes, effects, and current treatments of this deadly disease.
Progeria occurs due to a mutation in the LMNA gene. In normal cells, this gene encodes the structural protein lamin A. Lamin A, along with lamin B and lamin C, is a supporting component of the nuclear envelope (The Science Behind, 2014). It provides strength and stability to the cellular nucleus. A mutation in the LMNA gene causes the production of defective lamin A. This causes instability in the nuclear envelope (Bouhouche, 2007). This misshapen nuclear envelope renders the cell unable to replicate its DNA and divide normally. This action results in the signature symptoms of Progeria – rapid, accelerating aging, along with a host of resulting health problems which will be outlined throughout this paper.
Children with Progeria appear normal at birth. According to the Progeria Research Foundation, Progeria causes no abnormal complications during pregnancy or childbirth. The only variation from normal pregnancies and childbirths is a slightly lower birth rate among Progeria patients; symptoms usually first manifest between 18 and 24 months of age (Diaz, 2011). A distinctive blue vein appears across the bridge of the baby’s nose; slow growth and slight hair loss soon appear. The symptoms then become more serious over time. They experience dilated veins around the head, and inadequate room for tooth development (Pesce & Roth, 1996). They begin to lose subcutaneous fat, their...
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In addition to these defects of DM, the normal process of aging is associated with additional risks for the
Although numerous stress conditions lead to an imbalance of proteostasis, aging is the most deleterious risk factor for the onset of protein aggregation diseases. The declined activity or inefficient assembly of the proteasome in aging process exacerbate collapsing of proteostasis further.
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When the children are diagnosed they have a number of symptoms that point towards progeria. When they are born there is no sign that they have progeria. They look like normal babies. They start having the appearance of someone with progeria as they get into their first or second birthday. They start to loose all of their hair, including the eyebrows, their veins start sticking out like an elderly person's would. They have ears that have no ear lobes and that stick out a lot."A broad, mildly concave nasal ridge nose, prominent eyes, thin lips and micrognathia (small jaw) with a vertical midline groove in the chin."(Baek, McKenna, Eriksson, 2013) Their teeth grow slowly...
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, but at different rates and time. Many genetic diseases such as Alzheimer’s disease and Huntington’s disease are prevalent in older individuals and the symptoms being to appear in middle adulthood. The causes of genetic diseases and disabilities in older individuals are explained by three evolutionary theories: antagonistic pleiotropy theory, mutation accumulation theory and disposable soma theory. These theories suggest that favorable natural selection and heavy allocation of resources for somatic maintenance during the reproductive period decreases the chances of genetic diseases in younger individuals.
2. "Rett syndrome." Holly A. Ishmael, MS, CGC. The Gale Encyclopedia of Genetic Disorders. Ed. Laurie Fundukian. 3rd ed. Detroit: Gale, 2010. 2 vols.
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...
Genetic research has linked the cause of two types of polydactylism, post-axial and pre-axial, to several gene mutations. One particular example is a frameshift mutation in the GLI3 gene on chromosome 7. GLI3 stands for GLI family zinc finger 3 and it is a transcription factor that is vital for proper early development, since it plays a role in the patterning of tissues and organs during embryonic development. Therefore, many congenital anomalies, such as polydactyly, can be linked to the improper expression of this gene.
It is noteworthy to mention that there are numerous diseases associated with rapid ageing and progeria like symptoms. Cockayne, Lison, Werner’s, and Wiedemann-Rautenstrauch Syndromes are amongst these diseases. The shortened term progeria can be used to address any of these disorders but is most often specifically associated with HGPS. This distinct disease was named after Jonathan Hutchinson and Hastings Gilford who each independently described it in 1886 and 1897 respectively. Thankfully, this alarming syndrome is so rare that it only affects about 1 in every 4 million children born.
Progeria comes from a Greek word that means prematurely old (Ludman). After finding more cases of Progeria, researchers have discovered that there are three types of Progeria: Werner’s Syndrome, Wiedemann-Rautenstrauch Syndrome, and Hutchinson - Gilford Syndrome. Werner’s Syndrome is the adult type of Progeria, where a person starts to see symptoms in their teen years, and typically lives until their 40’s or 50’s (Gordon). Another type of Progeria is Wiedeman-Rautenstrauch Syndrome, which occurs in infants. In this case symptoms are noticed immediately after birth and the child normally only lives to their teen years (Staff). Lastly, Hutchinson-Gilford Syndrome is a type of Progeria in children where symptoms appear around the age of two, and the child’s shortened life ends in the teen years (Gordon). While there are different types of Progeria, this paper will focus specifically on Hutchinson-Gilford Syndrome.
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Aging occurs in every species. Over time a change occurs on a cellular level in a person’s body, which causes degenerative effects on the brain, muscles, organs, bones, hormones, and DNA. In 1991, the book Evolutionary Biology of Aging, offered the following definition of aging: a persistent decline in the age-specific fitness components of an organism due to internal physiological deterioration.1 Aging affects the body physically and mentally. Many people dread getting older due to the numerous changes the body goes through. The geriatric population experiences many pains and is inflicted with various diseases. There are a few who are lucky enough to not get diagnosed with a life altering disease, such as Alzheimer’s, type II diabetes, high blood pressure, macular degeneration, or some form of cancer. Studies have shown that genetics play a vital role in the aging process.
Hutchinson-Gilford Progeria Syndrome is one of the world’s rarest diseases. There have been less than a hundred reported cases worldwide. Although the cause of the disease has been detected, because of its rarity, there is still no known cure for the condition. The life expectancy of a child with Hutchinson-Gilford Progeria Syndrome is 13 years. Many efforts have been made to help find a cure for this disease. The Progeria Research Fund is solely focused on raising funds towards the research for this fatal condition.
As newborn, children with Progeria usually appear normal at birth. However, within a year their growth rate slows and they soon are much smaller and weigh less than other children they age. Then later they begin to accelerate aging and some signs of progeria may start. Growth failure, Loss of body, Loss of hair, Skin starts to look aged, Stiffness in the joint, Hip dislocation, Generalized atherosclerosis, and stroke are all symptoms that child with Progeria will have. Children who suffer from Progeria are genetically susceptible to premature, progressive heart disease (Davis 2). Progeria appears to occur without cause and it is not seen in siblings of affected children. Children with Progeria have a surprisingly appearance.
The basic structural and functional units of an organism are cells. They are the smallest living units in the human body. Over time, cells begin to experience changes associated with the process of aging. These changes occur slowly at first, but progressing over time. Aging cells are more susceptible to an increase in cellular damage, which can lead to abnormal cell function. As a result, cell division and replication occurs at a slower rate or may not occur at all in some cells. All cells con...