Single Gene Mutation In Progeria

The likelihood of close relatives sharing the same recessive alleles is greater than in the general population, raising the risks that a child would be homozygous recessive for a trait.

HGPS is not a genetic disease that can be passed down through family members, because people who suffer from it don’t live long enough to reproduce, or at least not very often. Those who do have a chance to reproduce usually choose not to, because as much as they want a baby and a normal life, they know that they will be gone soon and don’t want them to have to go through that, or have there be a chance that the baby gets the disease too.

     Progeria is a rare disorder; therefore, the transmission of the disease from parent to offspring is not a likely occurrence. However, when the disease is transmitted both mother and father must carry a mutant gene. If just one parent is carrying a single mutant gene, they will not show any symptoms of Progeria and will not pass it along to their offspring. When both parents carry the gene, their offspring now has a 25% chance of being born with Progeria..

This is about equivalent to one baby with the disorder being born each year in the United States. Since this disorder was discovered over a century ago, only a little over a hundred cases have been reported, but they were hard to study from because of the lack of technology. The Progeria Research Foundation is the single organization that

No autosomal dominant disorders do not skip generations; they pass on through each generation. If parents have a child, their child will receive the same autosomal dominant disorders that the parents had. And the opposite, if the parent don’t have any autosomal dominant disorders, then the child won’t have

Progeria is a very rare disease and affects about one in 4-8 million children, with an estimated 200-250 cases worldwide. It affects males and females equally and is found in all races. HGPS is not usually passed down in families; it’s extremely rare and almost always happens by

80% of achondroplasias have normal sized parents, which mean that their parents have the genetic disorder dormant in their bodies. (News Medical, March 28, 2014.)

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).

This disease is genetically inherited and is a dominant characteristic, therefore unfortunately the offspring of a victim has 50% chance of inheriting the disease.

Experts do not believe that Progera is hereditary. They say it is due to a rare gene change, which happens purely by chance. A non-twin sibling runs the same risk of having Progera as any other child from another family. In about 1 in every 100 cases of HGPS the syndrome is passed down to the next generation within the same family. The health care professional will possibly suspect Progeria if the signs and

Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS) is an extremely rare genetic disorder where symptoms resembling aspects of aging are displayed at a very early age (Progeria 101). A genetic disease is an illness caused by one or more abnormalities in the genome, especially a condition that is congenital (present from birth). Genetic diseases are rare and may or may not be heritable. There are thousands of extremely rare genetic diseases, one being Progeria. Progeria affects its victims and their families more than physically; it takes a toll on the mental and emotional state of mind.

Familial Dysautonmia is passed on through genetics. It is very rare because it is a recessive gene. Both parents will have to have a mutilation for a child to get Familial Dysautonmia. Some people may have the mutated gene, but not show symptoms of Familial Dysautonmia. It is from a mutation in the IKBKAP gene. Think of genes

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

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.

It was found in recents studies that KS is most commonly inherited maternally. Due to the regular levels of aneuploid sperm men produce, all men in the general public have a risk of producing an aneuploid child, therefore producing a child with KS. Knowing this, a man does not necessarily have to have KS to still produce a child with Klinefelter syndrome however it is more common for a child to inherit Klinefelter syndrome if his father also has KS.