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
fatal condition is caused by a mutation in a gene called LMNA( Lamin-A). This gene produces a protein (Lamin-A protein) which is a foundational scaffolding that keeps the nucleus of a cell together. It is said by scientific researchers that the defective Lamin-A protein makes the nucleus unstable. This cellular instability consequently leads to the process of premature aging. (foundation, 2014) LMNA codes for Lamin A and C, the A type Lamins are the important structural components of the nuclear envelope
They are innocent children with their lives cut short. All of this happens because of a small change in their genes. Hutchinson Gilford Progeria Syndrome is a genetic disorder that causes premature aging. It is caused by a point mutation in the gene, Lamin A. The child has normal emotions and intelligence. It does not impact the brain only the health and appearance. Progeria causes the child to have the physical characteristics of an old person. The first time it is visible that something is wrong is
characterized by early onset of contractures and humeroperoneal distribution. Humeroperoneal refers to effects on the humerus and fibula. The genes known to be responsible for EDMD encode proteins associated with the nuclear envelope: the emerin and the lamins A and C. Cause Emery-Dreifuss muscular dystrophy is a genetic disease. It can express itself in three forms. This forms are: X-linked form Autosomal dominant form Autosomal recessive form X-linked form The X-linked form of Emery-Dreifuss muscular
band under the plasma membrane, this gives strength to the cell and links transmembrane proteins such as cell surface receptors to cytoplasmic proteins. Intermediate filaments include keratins, lamins, neurofilaments and vimentins. Keratins form hooves, horns and hair and are found in epithelial cells. Lamins form a type of mesh that ‘stabilizes the inner membrane of the nuclear envelope’ (Biology Pages). Neurofilaments bring strength to the axons of neurons and vimentins provide mechanical support
appears to occur without cause and it is not seen in siblings of affected children. Children with Progeria have a surprisingly appearance. 90% of children with Progeria have a mutation on the gene that encodes Lamin A, a protein that holds the nucleus of the cell together (Conley 4). Lamin A protein makes the nucleus stable it leads to the process of premature aging among Progeria patients. Experts do not believe that Progeria is hereditary. In about 1 in ev... ... middle of paper ... ...yday
An Overview of Hutchinson-Gilford Progeria Syndrome 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
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
cause of Progeria is a genetic mutation. This disease stems from "a single-nucleotide substitution that leads to aberrant splicing of the LMNA, the gene that encodes for the A-type nuclear lamins."(Kudlow, Kennedy, and Monnat 398) This single-letter misspelling occurs on chromosome 1 of the gene, which codes for lamin A. A point mutation from cytosine to thymine ensues near the end of the LMNA gene, a discovery by the Collins Laboratory. Gly608Gly,the most common mutation, results in "one hundred and
worldwide. This condition is diagnosed by genetic testing along with other physical examinations. This condition is caused by a mutation in the LMNA gene. The LMNA provides instructions for making proteins called lamin. This condition results in the production of an abnormal version of the lamin A protein. Because of this mutated protein, the nuclear envelope is unstable and the nucleus becomes progressively damaged. The average life expectancy for someone with this disease is approximately 13 years old
symptoms and effects of progeria are delayed or absent formation of teeth, observable veins, baldness, aged-looking and dried skin, and stiffness of joints. Progeria is caused at random by a mutation which affects the nuclear membrane of the protein lamin A. LMNA is a gene that provides specific instructions in developing certain proteins. Two major proteins, found throughout most of the body’s cells, are encoded by this gene. They are prelamin A and prelamin C. The prelamin A protein has a farneysal
while actin filaments have persistence to few micrometers and some millimeters for microtubules. However, the special packaging steps for intermediate filaments make them actually difficult to break. Examples for intermediate filaments are nuclear lamins, keratin and neurofilaments. 2 Motor
replication fork stalling and, subsequently, DNA DSBs. The binding of XPA to the stalled forks excludes normal binding by repair proteins, leading to DSB accumulation, which actives ATM and ATR checkpoints, and arresting cell-cycle progression. As mutant lamin proteins takeover the immune system, they sequester replication and repair factors, leading to "stalled replication forks, which collapse into DNA double-strand beaks (DSBs)." These DSBs bind to Xeroderma pigmentosum group A (XPA) protein, which replaces
Baraka, Ajamu (25 Oct. 1953 - ), human rights defender and community organizer, was born at Plymouth, Indiana, United States. He is the oldest of the five children of Raymond and Beverly Ball. His father worked odd jobs until he ultimately retired as a Post Office worker and his mother was a domestic and a nurse in senior citizen homes. During Baraka’s early childhood, his family enjoyed a middle class life on the South Side of Chicago until his parents separated in 1963. Baraka and his siblings
life, Werner’s Syndrome might not appear until the teenage years and can continue until one reaches his or her maximum lifespan of 40 or 50 years of age. Progeria occurs because there is a mutation in LMNA, a gene that produces specific protein, lamin A protein, that plays an integral role in holding a cell’s nucleus together. This mutation leads to the production of progerin, a protein that causes the nucleus to be unstable. With this instability comes “the process of premature aging and disease
KoAP Biology Summer Assignment: Survival of the Sickest Questions 1. Life is more abundant in the North Atlantic than in the Pacific because the ocean area of the North Atlantic is directly in the path of iron-rich dust from the Sahara Desert, which leads to the development of bigger communities of phytoplankton, and in turn plankton, and so on. This fact is related to global warming because someone thought of an idea to fight global warming by putting huge amounts of iron solution into the ocean
It has been widely accepted from media depiction of terrorist attacks, that they normally occur in the streets of some Middle Eastern town, within a war-torn over ran village seized by a drug cartel, on a train or discotheque in Europe, or somewhere other than in the sky. As stated within The National Counterterrorism Center: Report on Terrorism (2011), traditional or well know tactics account for some 80% of all attacks, terrorist attacks directed toward airlines or air vehicles are less than 2%
7 INTRODUCTION 7.1 Introduction about laminates Lamination is the technique of manufacturing a material in multiple layers, so that the composite material achieves improved strength, stability, sound insulation, appearance or other properties from the use of differing materials. A laminate is usually permanently assembled by heat, pressure, welding or adhesives. Laminates is manufactured product that simulates the look of hardwood, ceramic tile, natural stone and many other types of flooring
principles. I will also conclude my final view on outsourcing and the benefits of using a framework for making ethical decisions. Utilitarianism Outsourcing has been viewed as a strategic decision rather than as an ethical dilemma. Robertson, Lamin & Livanis state that there are ethical considerations that are largely overlooked in evaluations of outsourcing decisions (2010, pg. 185). When reviewing an ethical dilemma, there must be a framework for which a decision can be made. “Utilitarianism
The author of Roots, Alex Haley wrote Roots because he was searching for clarity. As a young boy, he listened to the stories his grandmother would tell him about their ancestors. Haley became intrigued with the early generations of his family. Haley decided that he would go as far back as possible to find out more information on his ancestors. After 12 years of traveling and research he finally gathered all the information he needed and decided to write a book on the saga of his family. He titled