bizarre genetic disease that seems to accelerate ageing could hold the key to longer lives for children with progeria.Progeria is an extremely rare, fatal genetic condition which causes babies to age quickly. Progeria was first described in an academic journal by Dr. Jonathan Hutchinson in 1886 and also by Dr. Hasting Gilford in 1897 both man was from England (Nordqvist 1). After discovering the two people they later came up with a new name for Progeria called Hutchinson-Gilford Progeria Syndrome (HGPS). Today in life there 53 cases of Progeria around the world and only 2 in the UK.1 in every 4 to 8 million babies are born with Progeria. Progeria effect all race equal boys and girls.
Trisomy 21 is the most common type of down syndrome and it account for 95% of cases. When someone has trisomy 21 they have 47 chromosomes instead of 46 in every cell, which is caused by an error in cell division known as nondisjunction. Usually a baby inherits genetic information from both parents, 23 from each parent, but at some point during cell division a pair of 21st chromosomes in either the X or Y chromosome fails to separate, causing the child to have an extra 21st chromosome. This one extra chromosome is the cause of down syndrome’s development delays and physical features that are associated with down syndrome. Translocation down syndrome accounts for about 3% of cas... ... middle of paper ... ...hat conceive over the age of 35 and older are most likely to have a child with the condition.
The condition is shockingly less common in United States and Europe, with less than five people out of 100,000 with albinism. In other places, such as southern Nigeria, the condition is found in about 20 out of every 100,000 (The Free Dictionary). Typically, both parents are carriers of the recessive gene that causes this condition. “The genes for OCA (Oculocutaneous albinism) are located on “autosomal” chromosomes. Autosomes are the chromosomes that contain genes for our general body characteristics, contrasted to the sex chromosomes (NOAH).” Many will go a majority of their lives with no idea that they carry such a powerful genetic mutation that causes albinism within their offspring.
A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception. The defect of this “glue” leads to phenotypes such as a thin, lanky build, flexible joints, sunken eyes, a chest that is sunken in or bulges out, curvature of the spine to one side (scoliosis), and flat feet. There are other physical appearances associated with this syndrome, but these are the most commonly noticed.
After examining twenty Progerians, eighteen were found to have the same genetic abnormality. The 19th case had a similar 'misspelling' in a nearby gene. The 20th case did not have "classic Progeria", (2).The gene which was found to be abnormal in eighteen of the cases, is responsible for making the protein called 'lamin A'. If this protein is defective, premature cell death occurs. This protein structures the inner layer of membrane surrounding the nucleus.
If this copy of the gene UBE3A is lost due to chromosomal change or gene mutation, the lost gene will not have active copies in parts of the brain. A majority (70%) of Angelman syndrome cases happen when a segment of the maternal chromosome 15 is lost or destroyed. A minority of the disease is caused by a mutation or loss of function of the mother’s copy of the UBE3A gene. The majority of cases result from uniparental disomy, which is when the son or daughter inherits two copies of chromosome 15 from his or her father. Translocation, or chromosomal rearrangement, can also cause the disease.
According to the Progeria Research Foundation’s website, there are currently 105 known cases in 38 countries worldwide. Since this disease is a sporadic autosomal dominant condition only one copy of the mutated gene is sufficient to cause the disorder. Progeria occurs mostly in people with no history of the disorder. Gene mutations know neither race nor sex, therefore this disease non-bias to race or sex and will occur with equal likelihood across all nationalities. The likely reason that this disease is so rare is because the gene cannot be passed on due to young age that this disease fatally attacks.
It is not very common, only 1 out of 15,000 people are born with it. It is caused by a genetic abnormality on the 15th chromosome. On a normal person, you have 23 pairs of chromosomes. In each pair, 1 gene comes from the mother, and 1 gene comes from the father. This is how things get passed down from parents to children (like eye color, height, skin tone etc...).
Patients with pancreatic insufficiency can take pancreatic enzymes with meals. Intestinal obstruction, which occurs primarily in infancy (meconium ileus), may require surgery. The liver may also be seriously affected by Cystic Fibrosis. No cure for the disease has yet been found. Cystic fibrosis is the most common inherited fatal disease of Caucasians, occurring about once in every 2500 births.
Down syndrome is a genetic disease where there is an extra chromosome on the 21st chromosome. Now there are three types of Down syndrome Trisomy 21, Mosaic Down syndrome, and Translocation Down syndrome. First we’ll talk about Trisomy 21. According to Mayo Clinic Staff (2011) “More than 90 percent of the time, Down syndrome is caused by trisomy 21. A child with trisomy 21 has three copies of chromosome 21 — instead of the usual two copies — in all of his or her cells.”(Para.3) so from this we can conclude that this is the most common type of Down syndrome.