Hutchinson Gilford Progeria

Question: Why does hutchinson gilford progeria present from birth whereas werner syndrome only manifests in puberty?

Answer: Werner Syndrome is a very rare, autosomal recessive disorder characterized by premature aging. Werner's syndrome more closely resembles accelerated aging than any other segmental progeria. For this reason, Werner syndrome is often referred to as a progeroid syndrome, as it partly mimics the symptoms of Progeria. The defect is on a gene that codes DNA helicase and it is located on the short arm of the 8th chromosome. The disorder is directly caused by shorter-than-normal length telomere maintenance. As a result DNA replication is impaired, thus making the times DNA can multiply in cells to not be able to have as many populations as normal cells do. Thus the effect will be delayed until the DNA telomere problem shows itself. Hutchinson-Gilford Progeria Syndrome (HGPS) is a childhood disorder caused by mutations in one of the major architectural proteins of the cell nucleus. This effect will be seen immediately from birth - the structural problem is present from day 1.

Question: Hutchinson-Gilford Progeria syndrome is it autosomal dominant or recessive and is it x linked? trying to find out if progeria syndrome is autosomal dominant or recessive or if it is x linked.

Answer: From what I have read, it appears that it is autosomal dominant and is not X-linked as the gene most likely responsible lies on chromosome 1. Hope this helps

Question: Any info about Hutchinson-Gilford progeria syndrome? I have to a report and need as much info as possible, mostly charts and graphs, and have to have a bibliography. please help! no Wikipedia because anyone can change it......

Answer: http://en.wikipedia.org/wiki/Progeria

Question: Hutchinson-Gilford progeria syndrome? A single base change alters a C to a T and this causes a mutation to remove 50 amino acids from the encoded protein. How can a single base change cause 50 amino acids to be removed?

Answer: A specific mutation in the LMNA gene (on chromosomes1) has been found in most patients with Hutchinson-Gilford progeria syndrome. This mutation changes a single DNA building block (nucleotide) in the gene. Specifically, the mutation replaces the nucleotide cytosine with the nucleotide thymine at position 1824 (written as C1824T). The C1824T mutation leads to an abnormal version of the lamin A protein called progerin, which is missing 50 amino acids near one end. Progerin is a truncated version of lamin A protein involved in Hutchinson-Gilford progeria syndrome. Progerin is most often generated by a mutation (C1824T) in the lamin A gene, LMNA. This mutation activates a cryptic splice site and gives rise to a form of lamin A with a deletion of 50 amino acids

Question: is progeria a recessive or dominant gene? Hutchinson-Gilford Progeria syndrome

Answer: It is a dominant gene

Question: what are the phenotype and genotype of progeria? hutchinson-gilford progeria syndrome phenotype genotype

Answer: The genotype is probably recessive, so if you were using the letter h, it would most likely be hh. The phenotype is looking a lot older than you really are. Most die young from strokes, heart attacks, etc - diseases that affect older people in their 50's and 60's, except these people die before their 20's in most cases.

Question: Why did God create progeria? "Progeria (Greek, "old age") refers specifically to Hutchinson-Gilford Progeria syndrome. Hutchinson-Gilford Progeria syndrome is an extremely rare condition in which physical aspects of aging are greatly accelerated, and few affected children live past age 13. About 1 in 8 million babies are born with this condition. It is a genetic condition, but occurs sporadically and is usually not inherited in families." (from Wikipedia) jacqueline: Srsly? This is a pretty painful way for a child to go; I mean dying of a heart attack or stroke at such a young age?!

Answer: Either sin or because he wants those kids to "come home" more quickly than others because he loves them soooo much. Am I right, Christians?

Question: Progeria question? If someone has a case of Hutchinson-Gilford Progeria Syndrome, does the rapid aging also influence maturity and intelligence? Or is it a different kind of syndrome?

Answer: In the case of Progeria mental development is not affected...

Question: How young can you die of old age? How old is old? Is the children with Progeria or Hutchinson-Gilford syndrome considered to have died from old age?

Answer: There are various ways of shuffling off this mortal coil, but people actually die from injury (such as a fall or car accident) or disease (such as cancer). No one dies of old age. Usually when a person is said to have died "of old age," it means that he or she succumbed to one of the diseases common in our later years. While many older people do suffer from health problems, disease does not automatically accompany aging, and seniors are living longer and healthier than ever. Just as youth does not guarantee good health, old age does not guarantee poor health. It is true that living cells have a finite life span, but that doesn't mean that the organism simply dies because the cells are old. Instead, genetic mutations, diseases, and damaging effects of the environment can foster a specific disorder or disease. As people get older, their cells simply don't work as well, and can't stave off disease as easily or heal as well as they once could. As a result, older people may die from injuries or diseases that a younger person would easily survive. But nothing dies from simply being old.

Question: What does this mean? when someone described independently i read it when i was reading about Hutchinson-Gilford Progeria Syndrome and it said that Hutchinson identified it while Gilford described independently or something. and i have no idea what that means. help?

Answer: Sounds as they co-discovered the syndrome. Happens all the time. Wallace came up with a theory of natural selection when Darwin was dithering about publishing.