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
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.
Med. Genet 2009. 46, 825–833; Cardoso, C., Leventer, R.J., Ward, H.L., Toyo-Oka, K., Chung, J., Gross, A., Martin, C.L., Allanson, J., Pilz, D.T., Olney, A.H., et al. (2003). Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am. J. Hum. Genet. 72, 918–930). MDS is caused by a heterozygous deletion of chromosome 17p13.3, involving several genes including PAFH1B1 and YWHAE coding for LIS1 and 14-3-3 proteins, respectively. This deletion induces malformations during cortical development (Dobyns, W.B., Stratton, R.F., Parke, J.T., Greenberg, F., Nussbaum, R.L., and Ledbetter, D.H. (1983). Miller-Dieker syndrome: Lissencephaly and monosomy 17p. J. Pedod. 102, 552–558; Chong, S.S., Pack, S.D., Roschke, A.V., Tanigami, A., Carrozzo, R., Smith, A.C.M., Dobyns, W.B., and Ledbetter, D.H. (1997). A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Hum.
This disease is genetic and has no environmental factors. De Grouchy syndrome is a rare condition caused by a chromosome 18 abnormality. The affected person will have a short stature, lack of muscle tone, hearing impairment, and foot deformities. Poor coordination, involuntary eye movement, seizures, a small head, underdeveloped mid-face, deep-set eyes, and autistic behavior are also symptoms. There is no known treatment for De Grouchy syndrome. Scientists are working on a treatment, but it is hard to make a treatment for a disease that has no environmental factors. To effectively diagnose De Grouchy syndrome, a genetic analysis needs to be performed. You must go to a hospital or doctor's office to have it diagnosed. It is genetic and it cannot
Although, chromosome 17 contains multiple genes and each cell contributes to the condition. The loss of the RAI1 gene is considered to be the main source of the syndrome. It has also been seen in a small percentage of the affected that rather than a full deletion of the RAI1 gene, they have minor mutations within the gene that cause variations of the disease. Provided that many individuals with just minor mutations may experience some of these symptoms; they are less likely to show some of the physical attributes that come alongside the full deletion of the RAI1
Deoxyribonucleic, or DNA, contains the instructions for the synthesis of molecules that are necessary for the survival of all living organisms. Genetic mutations can occur due to a variety of reasons, and the effects vary in severity. Hutchinson-Gilford Progeria (HGP) syndrome is a severe disease that arises due to a genetic mutation in LMNA gene, which codes for laminin A protein. Such alteration in the genetic code leads to a protein with an aberrant structure which is unable to function properly. The disease occurs approximately in one in eight million births (Coppedè, 2013), and death usually occurs at around the age of 13 (Coppedè, 2013).
This condition is caused by the deletion of several genes located on the long arm (q arm) of at least one strand of chromosome 7. Some of these genes include LIMK1, CLIP2, and NCF1. Much research is focused on the absence of a gene known as ELN, also known as the elastin gene (Williams syndrome, 2013). Researchers have suggested that the deletion of this gene is a major source of much of the phenotypical symptoms of Williams syndrome
Lastly, there is progeria, which affects the skin, cardiovascular system, and the musculoskeletal system. Progeria is essentially pre-mature aging. Children who have it age much faster than normal. Like Seth Cook, who is mentioned in the book, they lose all their hair, and get wrinkles by the time they are a year and a half old. Later on, cardiovascular problems, such as the hardening of the arteries and the development of deteriorating diseases such as arthritis, soon arise. Hutchinson-Gilford progeria syndrome was first described by and named after two scientists in England. The first scientist was Dr. Jonathan Hutchinson in 1886 and the second was Dr. Hastings Gilford in 1897. It was first diagnosed solely on appearance. Now it is diagnosed by their appearance, medical records, and
Marfan syndrome is one of these genetic disorders. It is a deletion on chromosome 15. Marfan syndrome is a disorder when a person’s connective tissues do not function correctly. Mutations in the gene that codes for the protein, fibrillin-1, cause the body to produce less of fibrillin-1. This lack of protein cause a different protein, TGF-Beta, to increase its production. This is what leads to problems within the connective tissues and the
For this journal I decided to watch this documentary that was directed by Sean Fine and Andrea Nix Fine. This particular one caught my eye because I had heard of the disease that is being studied throughout. The disease of examination is called progeria, a very rare disease that causes rapid aging of the diagnosed. Consequently though, the main character is a thirteen-year-old boy named Sam who is very optimistic with the condition that he has. What progeria does is age the children’s entire immune system so rapidly that by the time the they reach thirteen they have the same medical conditions of patients in their sixties.
Marfan syndrome is caused by transformations in the FBN1 gene. FBN1 mutations are associated with a broad continuum of physical appearance ranging from isolated features of Marfan syndrome to a dangerous and rapidly progressive form in infants.
Children who are affected by Hutchinson-Gilford Progeria syndrome typically look normal at birth. But then grow more slowly, they don’t gain weight, and overall fail to thrive. They then start to develop an odd facial appearance. This includes prominent eyes, a thin nose with a beaked tip, thin lips, a small chin, and ears that stick further out the side of the head overtime. It also results in hair loss, older looking skin, joint abnormalities, and a loss of fat under the skin known as subcutaneous fat. Individuals with this type of progeria typically live to only 13 years of age. Luckily this is a rare type, only 1 out of 4 million newborns worldwide are diagnosed with Hutchinson-Gilford progeria.
Researchers at the Salk Institute for Biological Studies announced that they have successfully reversed the aging process in mice and human cells in vitro and expected to develop their technique to help humanity. In the experience, they turn on four genes that are able to reverse adult cells to embryonic-like cells, as a result, promote recovery in a middle-age mouse. They even go further and increase the lifespan of a mouse by thirty percent by using a genetic mutation that causes Hutchinson-Gilford syndrome (Weintraub). The study supports the argument that aging is the result of the epigenetic process and proposes the possibility to not only slow but reverse aging. In addition, the researchers put a warning to anyone who are eager to manipulate
It was discovered that Progeria is caused by a single gene called LMNA. The LMNA gene produces a protein called lamin A and lamin C. Both help to stabilize the inner membrane of the cell’s nucleus. In Progeria, the LMNA mutation causes the gene to produce an abnormal lamin A protein called progerin. Lamin A “is an essential scaffolding component of the nuclear envelope, which is the membrane that surrounds the nucleus” (Genetics
What is Progeria? Well to put it into simple terms, Progeria is a genetic mutation that causes weakened skeleton and muscles (Ho, C. Y., Jaalouk, D. E., Vartiainen, M. K., & Lammerding, J. (2013 )as well as a perceived increase in age rate which often leads to people affected with Progeria to die during their teens or even earlier. Pargein only affects 1 in every 48 million (Bhattacharya, S. (2011) children born. And in 1998 only around 80 people had it.