Werner Syndrome : Disease Overview

Because there are different types of Waardenburg Syndrome, there are different types of inheritance patterns. Types I and III have an autosomal dominant inheritance pattern while types II and IV have an autosomal recessive inheritance pattern (Calendar 2013). The most common type of inheritance is the autosomal dominant inheritance (Type two 2013). An autosomal dominant inheritance pattern means that the mutated gene (EDNRB, EDN3, MITF, SNAI2, PAX3 and SOX10) is in each cell to cause Waardenburg Syndrome (Genetics 2013). In other words, only one parent has to have the copy of the altered gene in order for someone to have the syndrome. An autosomal recessive inheritance pattern means that the mutated gene has to come from both parents in order for a person to have Waardenburg Syndrome (Calendar 2013). Even though both parents carry the mutated genes, they don’t usually show any signs or symptoms of Waardenburg Syndrome.

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).

Progeria is one of the least known genetic disorders. There are two types of Progeria, the only difference being the age group that it affects. The Hutchinson-Gilford Progeria Syndrome is commonly called Childhood Progeria. The second type of Progeria is Werner’s Syndrome, which is the adult form of Progeria. What basically happens in this disorder is that age is accelerated seven times faster than that of a normal person. For example, for Hutchinson-Gilford Progeria Syndrome, a child could look like he is fifty when he is actually five years old. A twenty year old with Werner’s Syndrome could look similar to a sixty or seventy year old person. There is, even now, not much information known about this genetic disorder because

Hutchinson-Gilford Progeria syndrome, also known as HGPS, or Progeria, is a very rare genetic disease caused by a mutation in the cell. In 1886, Jonathan Hutchinson first reported case of a 3 ½ year old boy who had the appearance of an old man. In 1897 Hastings Gilford reported a second case with similar features. However, this mystery disease didn’t have a name until 1904, when it was named after the two men. People who have HGPS usually star showing symptoms by the age of 2, and only live to be a teen-mid-20s.

D1S80 locus is placed on the short arm of the chromosome 1. This locus does not code for the arrangement for protein, yet it codes for a series of tandem repeats of 16 bp in human. Distinctive number of this allele has different number of repeats. These quantities of repeats are exceptional to every human. Primer

Usher syndrome is a genetic disorder that causes its victims to get retnis pigmentosa (RP), or a disease that affects someone’s retinas resulting in tunnel vision, and hearing loss. The most common gene that becomes mutated is gene USH2A, this is a protein producing gene. It is a mutated recessive gene, meaning that in order to inherit Usher syndrome both parents have to be carriers of it. Once the child gets Usher syndrome, they will experience loss of eyesight and hearing.

The purpose of this paper is to discuss the effects of the disorder and how genetics and biochemistry work together to create this

Tay Sachs is a genetic disorder that occurs when there is a missing enzyme in the body. This causes a buildup of fatty substances in the nervous system (Gale). Beta-Hemosaminidase, or HexA, is the missing enzyme that causes the various nerve disorders that happen within Tay Sachs (NTSAD). This disease is inherited in a few different areas of the world, but it is most commonly

National Institutes of Health in a study called the Hawaii Lifespan Study. The research focused on the human homologue of DAF-]6 which includes a protein group FOXO (Fork head box transcription factor) that functions as a sensor in the IIS pathway, as it has been shown to influence lifespan across a number of species. The researchers conducted a nested case control study on five candidate genes (ADIPOG, FOXO1A, FOXO3A, SIRT and COQ7), with FOXO3A found to have a significant impact in healthy human ageing and longevity. This research article is useful as it is a long term study based on finding the genetics responsible for determining longevity and healthy ageing. The author’s research is limited as it is only conducted on a homogeneous male population and more in depth data is needed by performing similar studies on other populations and

It is a known fact that all measures of physiological function decline in human aging. While genetics certainly play a role in the declining of physiological function with age, it can be argued that a fundamental part of aging can be reflected by chemical processes resulting in the appearance of harmful side products of the normal metabolism over time. When enzymes speed up reactions it is harder to slow them down. At the same time side reactions are constantly occurring and more and more unwanted side products are continuously being formed.

This refers to chromosome number 2 between the bands 2q23 and 2q24, as illustrated in the diagram below. Knowledge about this disease can help to develop a cure. (papers), 2012)

Genetic risk factors for HS-aging have been recently identified. Unlike AD, the apolipoprotein E4 (APOE4) genotype is not a risk factor for HS-aging [11]. Potassium channel subfamily M regulatory

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

Wolf-Hirsch horn syndrome impacts many features such as facial lucks like wide eyes, body is smaller then is supposed to be. This syndrome is made when you are born. People that have this disorder usually cant eat some foods because the foods can cause pane, and some times it can be so bad that a person can even die.

Telomeres are directly correlated to the aging of a human body. Although some people might think that shorter telomere lengths are detrimental, the natural shortening of these telomeres are essential to healthy and normal aging. It is natural for cells to divide through mitosis, but each time cells are split telomeres are lost through the process. This is why the telomere maintenance system was evolved to protect the ends of chromosomes (Prescott, Kraft, & Chasman, 2011). Every time a cell is divided, its telomeres are weakened, and stress can accelerate this weakening, and biologically age the person. As a