Progeri A Genetic Analysis

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).

The nuclear lamina, a netlike array of protein filaments, connects the layers of the nuclear envelope. 12. What is the nuclear lamina? Nuclear matrix? The nuclear lamina is the netlike array of protein filaments that maintains the shape of the nucleus by mechanically supporting the nuclear envelope. The nuclear matrix is a framework of protein fibers extending throughout the nuclear interior. The nuclear matrix and nuclear lamina may help organize the genetic material so it functions efficiently.

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

Genetics determine the traits an individual will inherit from their parents. In society today, the role of genetics is crucial; they decide ones physical appearance as well as their personality. However, if there is a mutation located in one of the genes that a child receives it is very likely a deformity will be present. A rare yet fatal defect from a gene mutation such as this is Progeria. This disorder is an unfortunate one that may occur in two forms, either Hutchison-Gilford Progeria or Werner syndrome. Not only do they affect the bone structure and appearance of the child, but they substantially shorten their life spans.

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.

Progeria, also known as Hutchinson Gilford Progeria Syndrome, and Progeria syndrome, is an extremely rare genetic disease wherein symptoms resembling aspects of aging are manifested at a very early age. The Progeria come from the Greek words “pro” meaning “before” and “gēras” meaning “old age”. The disorder has a very low incident rate, occurring in an estimated 1 per 8 million live births. Those born with Progeria typically live to their mid teens and early twenties. It is a genetic condition that occurs as a new mutation, and is rarely inherited. Although the term Progeria applies strictly to all diseases characterized by premature aging symptoms, and is often used as

The type of Progeria Sam had is called Hutchinson-Gilford Progeria Syndrome, “child Progeria” rather than Werner’s syndrome, also know as “adult Progeria”, that does not occur until late teens, resulting in longer lives into the 40’s-50’s (“Progeria 101/FAQ"). Progeria has a vast amount of symptoms that the majority of those suffering deal with as well as symptoms that are seen less often. Throughout early infancy, children with Progeria resemble normal infants’ physical appearance. Around age 1 or 2 they begin to display extreme growth delay causing them to be short, and have low weight. Their faces appear to be small compared to their head size; furthermore, their faces seem shrunken, wrinkled, and slender. Skulls will have visible veins along the forehead, nose-bridge, as well as the other areas across the head. Other symptoms include having a small jaw, delayed or failed tooth development, deformity of teeth with crowding, beaked nose, prominent eyes, brittle nails, dislocated hips, skeletal defects, and loss of hair, eyebrows, and eyelashes (Chandravanshi et al.). More damaging symptoms are atherosclerosis (hardening of the arteries), cardiovascular issues (strokes heart attacks), arthritis, and osteoporosis (“Progeria 101/FAQ"). The children who have Progeria are very similar in appearance with little effects from various ethnicities (“Progeria 101/FAQ"). Normally the complications of atherosclerosis lead to the deaths of the children around

Jonathan Hutchinson, and in 1897 by Dr. Hastings Gilford.” The cure of progeria is yet to be discovered, because of this it is still in the research phase. “Although they are usually born looking healthy, most children with Progeria begin to display many characteristics of Progeria within the first 2 years of life” (Mayo clinic). Currently progeria is prevalent in all parts of the world, scientists and researchers are currently testing a new drug called Lonafarnib. This drug was originally used to treat cancer, but has proven effective for progeria. “Generally speaking, there is no way to pass this disorder along, since the mutation is spontaneous when it comes to the birth of a child.” (Americanpregnancy.org) This means that there is no big concern with progeria, since it can't be passed through genes and

According to Mayo clinic Progeria also known as Hutchinson-Gilford syndrome, is an extremely rare, progressive genetic disorder that causes children to age rapidly, starting in their first two years of life. Children with progeria generally appear

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

Aging is an unavoidable stage of the body lifespan, which results in lower physiologic capacities, lower homeostasis, and high vulnerability to acquire diseases. Aging changes generally occur later in life, but one in every four or eight million newborns are born with Hutchinson Gilford Progeria Syndrome (HGPS), and manifestation of advance age related diseases like thin skin, osteoporosis, cardiovascular diseases, etc. Progerias is identified by physical and clinical features that portray premature ageing. This syndrome is a rare and fatal genetic disorder identified by accelerated premature ageing and extremely fast developed cardiovascular diseases.

Now that scientists know that progeria is usually caused by a change of one letter in the billions of letters in DNA, that change can be seen using a genetic testing. During the genetic sequencing, the gene is “decoded” and its sequence is determined letter by letter (www.progeriaresearch.org). With only sixty-eight people reported in the world with this disease, progeria is caused by a change in the DNA in the gene called LMNA. The LMNA gene produces a protein called Lamin A, which structure holds the nucleus of a cell together. Researchers came to the belief that with the defective Lamin A protein, it makes the nucleus unstable leading to the rapid aging.

Hutchinson-Gilford progeria syndrome is a genetic disorder that causes the appearance of young children to intensely and rapidly age and have illnesses that are typically associated with the elderly. Progeria is caused by a mutated gene called the LMNA and this gene produces a protein called lamin-a. Lamin-a is an important protein because it is what’s responsible for creating the shapes of the nucleus in cells. It’s also responsible for supporting the nuclear envelope, which is the membrane that surrounds the nucleus. Progeria is caused because of the creation of an abnormal version of the lamin-a protein.

Aging is the process of becoming older, as we age, multiple mutations occur that concern all the processes of aging well as it compromising a number of different genes. There are many theories of biological aging, such as the Cellular Aging Theory, Immunological Theory, and the Wear and Tear Theory. The Cellular Aging theory describes the process of aging in which cells slow their number of replication, thus giving each species a “biological clock that determines its maximum life span” and how quickly one 's health will deteriorate(Hooyman, 42). After a certain number of years, each cell which follows an apparent biological clock starts to replicate itself less, thus the specific individual or species slowly deteriorates. This theory gives

Also spelled as ageing, this is generally the process of becoming old. It is the in a way the opposite of immortality. In a broader aspect, it may occur to single cells in an organism also called cellular senescence or the population of a species, known as population ageing. This process primarily affects human beings and fungi. In humans, it signifies the accumulation of various changes which occur over time. The changes include physical, social and psychological changes.