Causes and Symptoms of Progeira Disease

620 Words2 Pages
bulb-icon

Recommended: Introduction genetic disorders pdf

Progeria Disease
The moment that we are born we begin the aging process, where the majority of humans are born youthful and slowly grow older. Our bodies display normal wear and tear done from our past such as; aged skin, hair loss, and joint stiffness as we progress through life. Imagine being a new mother and one day you notice your infant displays symptoms of accelerated aging. Well, about one in 8 million children are born with an extremely rare, fatal genetic disease called Progeria (Neelam, Singh). The name is derived from the Greek word progeros meaning ‘prematurely old’. There are different variations of this disease; the most common type being Hutchinson-Gilford Progeria Syndrome (HGPS). The discovery was first made in 1886 by Dr. Jonathan Hutchinson, and then in 1897 Dr. Hastings Gilford was the first to refer to the disease as Progeria. This paper will discuss the cause of the disease, along with signs and symptoms that are commonly displayed. Progeria is caused by abnormal genes, resulting in rapid aging of individuals who suffer chronic and progressive symptoms, ultimately affecting the quality of life.
This extremely rare disease is caused by a mutation in the LMNA gene. Normally this gene produces a protein called Lamin A. This protein functions as a structural component in the nuclear envelope, and plays an important role in determining the shape of the nucleus. According to Sarkar, mutations that cause Hutchinson-Gilford progeria syndrome result from the defective Lamin A protein. This alteration creates an unstable nuclear envelope there by damaging the nucleus. Cellular instability leads to the process of premature aging
A newborn with Progeria disease typically appears healthy at birth. It affects both males...

... middle of paper ...

...day with this fatal disease. A mutation in the Lamina A protein cell results in rapid aging, ultimately affecting how one lives their life. With an early diagnosis of Progeria, damage can be prevented and also following management precautions can greatly increase the quality of life.

Works Cited

Chien, H. (2012). Progeria [Electronic version]. Springer Link, 1735-1741. doi:10.1007/978-1-4614-1037-9_197
Neelam, S., Krishna, M., Semwal, B. C., Shravan, P., Kuldeep, S., & Deepak, S. (2012). PROGERIA: A REVIEW. International Journal of Pharmaceutical Sciences Review and Research, 14(1), 44-49. Retrieved from http://search.proquest.com/docview/1018555014?accountid=1599
Sarkar, P. K., & Shinton, R. A. (2001). Hutchinson-guilford progeria syndrome. Postgraduate Medical Journal, 77(907), 312-7. Retrieved from http://search.proquest.com/docview/206274391?accountid=1599

Show More
Related

  • The Complexity of Arnold-Chiari Malformation

    823 Words  | 2 Pages

    To the medical doctor, Arnold-Chiari Malformation, which may have a genetic link, is characterized by a small or misshapen posterior fossa (the depression in the back of the skull), a reduction in cerebrospinal fluid pathways and a protrusion of the cerebellar tonsils through the bottom of the skull (foramen magnum) into the spinal canal resulting in a multitude of sensory-motor problems and even some autonomous malfunctions (1). These many symptoms can come in a variety of forms which often makes a clinical diagnosis difficult. To the patient this disorder can present not only physical difficulties but also mental distress. Treatment options and their success rates vary widely, and proponents of the cause are demanding more recognition, research, and success. The study of Arnold-Chiari malformations can lead to additional questions and new understandings about the I-function, sensory-motor input/output paths and the general make-up of the brain and nervous system, but a complete understanding of the disorder may be a long time coming.

    Read More

  • Reserpine Essay

    605 Words  | 2 Pages

    Physostigmine is a drug used for the treatment of severe anticholinergic syndrome. Such as nervous delirium, urinary reten...

    Read More

  • Intellectual Disability (Mental Retardation) Explored in What’s Eating Gilbert Grape

    2625 Words  | 6 Pages

    "Down syndrome." South African Medical Journal 101.1 (2011): 6. Health Reference Center Academic. Web. 16 Apr. 2014.

    Read More

  • TED Talk Rhetorical Analysis

    1172 Words  | 3 Pages

    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

    Read More

  • The Language of Life by Francis S. Collins

    1413 Words  | 3 Pages

    Francis S. Collins is a renowned geneticist who originally became Ph.D in Physical Chemistry at Yale University and later on, a Medical Doctor at University of North Carolina. As soon as he graduated he was offered a fellowship in Human Genetics at Yale University under the guidance of Sherman Weissman, currently Sterling Professor of Genetics. In the late 1980’s Collins became known in the field of Medical Genetics for his development of positional cloning, a technique that allows to locate a hereditary disease-causing gene by studying the inheritance pattern within a family. Working with his method researchers found the genes responsible for diseases like Cystic fibrosis, Huntington’s disease, Neurofibromatosis, Multiple Endocrine Neoplasia type one, and Hutchinson-Gilford Progeria Syndrome. In 1993 Dr. Collins succeeded Dr. James D. Watson as the director of the National Human Genome Research Institute (NHGRI), overseeing the role of the United States in the mapping of the human genome. In 2009 President Obama personally recommended Collins to lead the National Institute of Health (NIH) where he works until present day. Francis S. Collins is by no means a bragging individual, bits and pieces of his accomplishments are scattered throughout the book and he makes no big deal about it; instead he j...

    Read More

  • Theories on the Causes of Genetic Disorders in the Elderly

    1032 Words  | 3 Pages

    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.

    Read More

  • Progeria Essay

    1354 Words  | 3 Pages

    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).

    Read More

  • Essay On Prosopagnosia

    1084 Words  | 3 Pages

    Developmental prosopagnosia, also referred to as congenital prosopagnosia or even hereditary prosopagnosia, is characterized by no apparent brain damage that might cause the symptoms. Developmental prosopagnosia seems to affect mostly Caucasians (Kennerknecht, Ho & Wong, 2008, pg. 2863), and about 2% of the population- to put it in perspective, the same percentage as that of dyslexia (Grüter, 2010, pg. 511) (Susilo & Duchaine 2013, pg. 423) (Kennerknecht, Ho & Wong, 2008, pg. 2863). The difference between the terms developmental prosopagnosia, congenital prosopagnosia, and hereditary prosopagnosia depends on when one believes the disorder affects the brain; developmental prosopagnosia is a more general term, describing the cause of symptoms as being a result of “anomalies occurring at any time during the development of the mechanisms used for face recognition,” (Susilo & Duchaine, 2013, pg. 425). Congenital prosopagnosia refers to the theory of prosopagnosia being present at birth or early infancy (Susilo & Duchaine, 2013, pg. 425). Hereditary prosopagnosia is, quite clearly, a growing research area at the moment, linking prosopagnosia to a gene. Some evidence shows a very high correlation of prosopagnosia in first-degree relatives (Kenner...

    Read More

  • Progeria Syndrome Essay

    1759 Words  | 4 Pages

    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.

    Read More

  • Progeria Essay

    2105 Words  | 5 Pages

    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.

    Read More

  • Aging And Aging

    1058 Words  | 3 Pages

    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.

    Read More

  • Tobacco Cigarettes vs. Electronic Cigarettes

    692 Words  | 2 Pages

    U.S. National Library of Medicine, 26 Sept. 2011. Web. The Web. The Web. 19 Nov. 2013.

    Read More

  • Gymnastics Athletic Injuries

    1070 Words  | 3 Pages

    ... Medicine. 3rd ed. Vol.3. Detroit: Gale, 2006.2139-2141. Gale Virtual Reference Library. Web. 3 Apr. 2014.

    Read More

  • Why Do Humans Age?

    632 Words  | 2 Pages

    Human beings age and they have since the beginning of time, but it remains an unsolved mystery. This enigma has remained in the dark until the recent innovations technologies have shed some light on this elusive topic; cells are the key to figuring out why humans age. Aging seems to be a relatively simple process, but the more it is studied, it is evident that it is rather complex. There are a myriad of factors that contribute to aging, but none of them can single handedly answer the question of why humans age. This age long question is at the forefront of medical research. As a result, discoveries are frequently made, which contribute to the ever growing pool of knowledge. Perhaps in time, by researching this topic, the human lifespan will lengthen and the diseases that often plague the elderly can be prevented or subdued to a greater extent. Furthermore, human aging is proven to be closely linked with illnesses such as cancer, which is why so many world class scientists are pursuing this topic. Interestingly enough, there is no universal theory that is widely accepted by the scientific community; however, there are many theories that credibly explain the science behind aging. Aging is a subject that should be studied because it directly benefits many lives, and has tangible results.

    Read More

  • Is Suicide the Solution?

    1534 Words  | 4 Pages

    Ed. David Zieve. U.S. National Library of Medicine, 26 Feb. 2014. Web. The Web.

    Read More

More about Causes and Symptoms of Progeira Disease

Open Document