Mutation: Werner Syndrome For most, aging is an enviable part of the life cycle, which often involves a progressive change in physical, cognitive, and psychological aspects. However, individuals diagnosed with Werner syndrome face an escalated biological clock so to speak. According to Pierce (2013), Werner Syndrome, is an autosomal recessive disease associated with premature aging and early death. The rare hereditary disorder was discovered by the German Scientist Otto Werner and affects approximately 1:200,000 births (Kuan, 2016). The following will review Werner syndrome, including accompanied symptoms, specific mutation, discovery or the disease, impact of the mutation, and the potential for genetic technology.
Symptoms
While the syndrome
This specific gene code for RecQ helicase enzymes and is responsible for effective telomere replication, cell division, maintenance, and DNA repair (Kuan, 2016) To simplify, individuals with Werner Syndrome suffer from a defective helicase (Pierce, 2016). The impact of this defect will be discussed later in the reading.
Discovery
The relationship between the mutation and Werner syndrome can be described as a direct correlation. Pierce (2013), describes the RecQ helicase enzyme as being responsible for telomere replication; in Werner syndrome, this enzyme is defective and leads to shortened telomeres. Studies showed a that telomeres get shorter each time a cell divides, and shortened telomeres have been associated with aging (Pierce, 2013).
Impact
The impact of the mutation has various effects compared to that of normal events. The WRN gene provides instructions for the production of the Werner protein which assists with DNA replication; mutations lead to defective protein that fails to interact with the DNA (U.S. Department of Health & Human Services, 2016). Normal DNA replication would result in an unaffected Werner
With the growing scientific and technologic advances being uncovered every day, we can conclude genetic engineering technology could potentially provide early detection and eventually treatment of Werner Syndrome. According to Salk Institute for Biological Studies (2015), scientist believe they have uncovered the gene responsible for aging and hope to reverse the disease utilizing either the insertion of human stem cells with the deletion of the mutated gene or by using a currently developing method of editing the alteration in hopes of reversing human aging as well as disease (Salk Institute for Biological Studies,
Ivy is the third generation in her family to be affected by achondroplasia. Her grandfather, her father, and her brother also have it. Achondroplasia is inherited as an autosomal dominant trait whereby only a single copy of the abnormal gene is required to cause achondroplasia. Nobody with the mutated gene can escape having achondroplasia. Many individuals with achondroplasia have normal parents, though. In this case, the genetic disorder would be caused by a de novo gene mutation. De novo gene mutations are associated with advanced paternal age, often defined as over age 35 years. If an individual with achondroplasia produce offspring with a normal individual, the chances of the offspring inheriting the mutant allele achondroplasia is 50%. If both of the parents have achondroplasia, the chances that their offspring will be of normal stature a...
In current society, cancer is one of the most fatal and prevalent diseases to exist. However, new research being conducted on telomeres and telomerase provides insight on not only the aging process and mortality of cells, but also on how the idea of cell death connects to cancer cells. By gaining knowledge on the supposed immortality of cancer cells, researchers are acquiring a higher understanding of the subject, and attempting to work on alternate techniques to provide treatment for the illness. The connection between telomeres and cancer and the momentous discoveries being made on them is revolutionizing the world through potential current and future applications that have significant implications for cancer treatment, and society, the economy, and technology.
Eisenmenger Syndrome (ES) is a heart defect that was first giving the name in 1897 (Fukushima, 2015). This syndrome happens when the birth defect is not treated before the lungs’ arteries become damaged. Eisenmenger Syndrome is named after Victor Eisenmenger a man who had a patient who showed symptoms such as, breathing complications and skin that was turning a bluish color. The autopsy of this patient lead him to discover a ventricular septal defect [VSD] (El-Chami, 2014), that causes a hole in the wall on the right and left ventricular. This is the defect that begins when signaling for pulmonary artery hypertension, which progresses into more advanced stages of ES. This birth defect eventually causes patients to have various
(Calendar 2013) Waardenburg Syndrome is a rare genetic disorder meaning that is caused by a mutation of genes. The disorder is classified as type I, II, III, or IV based on inheritance pattern and symptoms (Genetics 2013). Waardenburg Syndrome is an incurable disorder that is inherited from either one or both parents. If it came from one parent, it is an autosomal dominant pattern and if it came from both, it is known as an autosomal recessive pattern (Calendar 2013).
Altherr, M.R., Bengtsson, U., Elder, F. F. B., Ledbetter, D. H., Wasmuth, J. J., McDonald, M.E., Gusella, J. F., Greenberg, F. Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4. Am. J. Hum. Genet. 49: 1235-1242, 1991. [PubMed: 1746553]
Tay-Sachs disease is a genetic disorder, eventually leading to death of the inflicted. Genetic diseases have to do with mutations in one or more than one of the genes located on a person’s chromosomes. In the case of Tay-Sachs, it is a mutation of an autosomal chromosome, specifically chromosome #15 (ncbi.nlm.nih.gov). The mutated gene is the Hex-A gene, which codes for the production of the enzyme beta-hexosaminidase A (see picture A) (ghr.nlm.nih.gov).
Because Williams Syndrome is very uncommon within a large crowd among people, the causes that are known to trigger the disorder are very few. The causes or conditions that are known to trigger Williams Syndrome is by the deletion of twenty-six to twenty-eight genes on chromosome #7. Many people may conclude that just because Williams Syndrome is a “genetic” disorder meaning that it has to be inherited from their parents are incorrect. Most people may not inherit Williams syndrome because the chances of his or her child to inherit the syndrome is a low 50/50 chance. That is because when the deletion of the 26 – 28 genes that takes place within the chromosome number seven are of what randomly chosen events that particularly occur in the male or female eggs or sperm .When dealing with Williams syndrome many symptoms may come upon the person with this disorder. Some of the symptoms may be not be that eye catching or life threating but some, however some can be life threating. In resulting the person to ...
...nescence is result of a combination of the antagonist pleiotropy theory, mutation accumulation theory and disposable soma theory. The three evolutionary theories claim that natural selection is weak and ineffective in sustaining reproduction, growth, survival and somatic repair during the post-reproductive years causing genetic diseases in older individuals compared to younger individuals. As biological processes shut down, older individuals develop a weak immune system that can no longer fight the deleterious genes and mutations leading to death. Moreover, the evolutionary theories paved way for new research in gerontology that led to the development of new genetic theories of aging. The definite cause of genetic diseases in older individuals is yet to be determined, but all theories suggest that senescence is an inevitable process that all organisms experience.
Myotonic dystrophy, type 1, is a genetic disorder which is linked to chromosome number 19 in humans. The dystrophia myotonica protein kinase gene is located on the q arm of the chromosome at the locus of 13.32. It is an autosomal dominant disorder, which means that the individuals that are affected by this disorder and contain at least one dominant allele for the dystrophia myotonica protein kinase gene. The disorder is caused by a series of repeats of a trinucleotide region that is expanded beyond the normal levels (Musova et al., 2009). The trinucleotide region is a series of repeats of CTG in the untranslated region of the dystrophia myotonica protein kinase gene. The severity of the disorder is associated with the number of repeats the individual has within the gene. Normal individuals tend to have between 5 and 37 repeats while an individual with a very mild myotonic dystrophy may have 50 to 150 repeats, and if the disorder is discovered at the time of birth the individual will have over 2,000 repeats of the trinucleotide region (Musova et al., 2009). Myotonic dystrophy, type 1, affects multiple organ systems of the body and is relatively slow to progress. Myotonic dystrophy, type 1, is categorized by alterations of the beating pattern of the heart, faulty dystrophin proteins, clouding of the lens of the eye, decreased functionality of the gonads, balding, and myotonia (Musova et al., 2009). Myotonia is described as the slow relaxation of any muscle type, which will cause the individual to use extended effort to simply relax the muscles after they have been contracted. Muscular dystrophy causes an individual to experience muscular deg...
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).
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.
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.
Telomere are special DNA structure that consist of repetitive nucleotide sequences, which serves as a “cap” to protect the ends of the chromosomes. These repetitive sequences can range from thousands of base pairs in Vertebrates to about a few hundreds of base pairs in yeast cells (Oeseburg, et al. 2009). Located at the ends of the chromosomes, the telomeres serves as a biological life line for cells. Once the telomeres reach a certain length, the cell will cease to divide. Oeseburg, et al (2009) suggested that the telomere has a crucial length, once reached, it could result in chromosome end-to-end fusion and chromosome dysfunction; which may eventually lead to cell apoptosis, c...
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...