Progeria is a rare disease that affects the nuclear envelope (lamina), and makes the nucleus unstable. It is caused by a mutation in the LMNA gene that produces an abnormal protein. This abnormal protein is called progerin, and it causes the process of premature ageing in an individual.
Eukaryotic cells contain a sphere-shaped nucleus that protects the genetic information (DNA) and separates it from the cytoplasm. The nucleus itself is protected by a double membrane called, the nuclear envelope. The nuclear envelope is made up of nuclear membranes, nuclear lamina, and nuclear pore complexes. The nuclear lamina is the sturdy protein that gives the nucleus its structure and shape. As well as providing structural support, “the nuclear lamina is required for most nuclear activities, such as chromatin organization, DNA replication, cell cycle regulation, nuclear positioning within the cell, assembly/disassembly of the nucleus during cell division, as well as for modulating master regulatory genes and signaling pathways.” (Baek, McKenna, Eriksson; 2013) The ability of the cell to
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(Progeria Research Foundation; 2003) Normally, the amino acid produced is lamin A, but when progerin is produced it gains a high liking for the nuclear membrane, causing disruptions to the nuclear lamina. Without lamin A, the nuclear lamina cannot provide the structural support for the nuclear envelope, causing it to take on an abnormal shape. This causes a huge strain for cell division; without the support that the nuclear lamina usually provides, the organization of chromatin for mitosis is disrupted and cell division is limited. When cells use progerin, they start to break down easier. Progerin builds up in many cells of the individuals, causing them to grow up faster than normal. Because of this the rate of ageing is 8-10 times faster than
The nucleus of a eukaryotic cell holds the majority of the cells DNA material, the nucleus is often referred to as the ‘control centre’ of the cell as it uses the DNA to direct all other activities within the cell.
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
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. It is believed that the defective Lamin A protein makes the nucleus unstable. This instability seems to lead to the process of premature aging among Progeria patients.
Nearly all animal cells have a nucleus, with the only exception being the red blood cell. The nucleus has two major functions, which are housing the DNA and controlling the cell’s activities. In the centre of the nucleus is the nucleolus. This doesn’t have a membrane, but holds itself together. In the nucleolus, ribosomes are created through the mixture of RNA and proteins. These proteins are originally found in the cytoplasm, outside the nucleus, but they travel through the pores in the nuclear envelope, through the chromatin and into the nucleolus. The structure of the nucleolus allows easy
The nucleus is enclosed in a nuclear membrane which has pores to allow RNA and proteins. The nucleus functions the activity in a plant cell and stores the plant’s DNA. (Plant Cell Anatomy, n.d.)
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
This is a rare medical condition that causes rapid human aging in childhood. This disease is terrible that it makes most children look just like 80-year-old people. Worst still, there is no treatment for progeria and children with progeria have very short lifespans, with most of them only living up to 30
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.
The most popular person to have hard proteus syndrome is Joseph Carey Merrick, Jesseph Merrick died in 1890 at
Progeria is a rare genetic disease that happens 1 in 20 million births. Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome. The LMNA gene provides instructions for making a protein called lamin A. This protein plays an important role in determining the shape of the nucleus within
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.
In 1886, the first case of Progeria was diagnosed by Dr. Jonathan Hutchinson. Progeria is a pre-mature aging system which is both rare and fatal. He began documenting features of a six year old boy who had symptoms of hair loss and atrophy of skin. Then, in 1897, Dr. Hastings Gilford pronounced Progeria as a clinical entity. The name Progeria comes from the Greek term “progeros" meaning, “prematurely old”. Virtually nothing was known about Progeria 30 years ago. Since it is an extremely rare disease, research didn’t begin until the 1990’s. This very rare disease occurs during childhood and is characterized by dramatic, premature aging. Hutchinson-Gilford progeria syndrome (HGPS) is the most severe form of the disease. Currently, the condition
down old age begins when we lack the ability to participate in physical activities because our muscles do not respond at the speed it did in the past. The water content of our tendons lessen, leaving our tissues stiff, it becomes difficult for us to control stress. The heart muscle propels blood at a slower pace towards the body, making us become tired earlier and only capable to recover gradually. The bone’s mineral component lessens and becomes decrepit (Effects of Aging). Worst of all, we ultimately lose our appeal, wrinkles, loss of hair or grey hairs spell out old. These are also characteristics of Progeria, a genetic condition affecting children with physical symptoms indicating untimely old age (Stem Cells: A Fountain of Youth). The
Progeria is a syndrome in individuals which causes physical signs and symptoms of premature old age. Progeria is a very rare and fatal disease. The syndrome’s name is Greek and means “prematurely old”. There are a few different types of progeria but the most common or “classic” type is called Hutchinson-Gilford Progeria syndrome. This was named after the doctors in England who first discovered and described progeria, Dr. Jonathon Hutchinson in 1866 and Dr. Hastings Gilford in 1897.