What Is Progeria?
Progeria, also known as Hutchinson Gilford Progeria Syndrome, is an extremely rare genetic disease of childhood characterized by dramatic, premature aging. Progeria derives it name from the greek word "Gera", which means "Old age". This rare genetic mutation was first observed by Dr. Jonathan Hutchinson in 1886 and by Dr. Hastings Gilford in 1904
What Causes Progeria?
Progeria is an autosomal, dominant disorder and and it occurs because of a point mutation on a single gene. This gene is known as LAMIN A (LMNA). Nearly all cases of Progeria are found to be caused by the substitution or replacement of one base pair of the aproximate 25,000 base pairs that make up the LMNA gene. Hutchinson Gilford Progeria Syndrome (HGPS) is caused by a mutation in the gene called LMNA. The LMNA gene produces the lamin A protein which is what holds the nucleus of a cell together. The abnormal lamin A protein that causes Progeria is called
progerin. Progerin makes the nucleus unstable. That instability leads to the process of premature aging and disease in Progeria.
progerin. Progerin makes the nucleus unstable. That instability leads to the process of premature aging and disease in Progeria.
Symptoms of Progeria
Symptoms of Progeria Include:
- Failure to grow within the first year of life
- Shrunken, narrow, or wrinkled face
- Loss of head/body hair
- Short stature
- Large Head
- Open soft spot
- Small Jaw
- Dry and thin skin
- Delayed or absence of growth of teeth
- Progeria does NOT affect mental capabilities or motor skills
- Failure to grow within the first year of life
- Shrunken, narrow, or wrinkled face
- Loss of head/body hair
- Short stature
- Large Head
- Open soft spot
- Small Jaw
- Dry and thin skin
- Delayed or absence of growth of teeth
- Progeria does NOT affect mental capabilities or motor skills
Diagnosis/ Prognosis/ Treatment
The chances of having a child with Progeria are 1 in 4 – 8 million. Doctors diagnose progeria based mostly on physical features such as failure to grow and hairloss, but will also have blood and genetic tests done for LMNA mutations to confirm the diagnosis of Progeria. Progeria is a fatal disease and most people with this disorder die in their teen years although it isn't uncommon that someone with progeria will live to their early twenties. Death is usually due to heart attack or stroke. Presently there is no cure for Progeria.
Who Can Progeria Affect and Where Does It Occur the Most?
Like mentioned before. the chances of having a child with Progeria are 1 in 4 – 8 million. Progeria can affect anybody. It is completely random so it can affect any
gender, any race, and any part of the world. There does not seem to be any specific group of people that this disorder can affect.
gender, any race, and any part of the world. There does not seem to be any specific group of people that this disorder can affect.
Karyotype/ Pedigree
-The cause of Progeria will not show up in a karyotype, but we know that it is a point mutation on chromosome number one
- A pedigree for progeria would vary from family to family and because people who get progeria die long before they have children, pedigrees end in dead ends.
- A pedigree for progeria would vary from family to family and because people who get progeria die long before they have children, pedigrees end in dead ends.
Dot Map
This is a map of children with progeria found around the world. Beccause the occurence of Progeria is completely random and can happen to anybody anywhere, there are no specific areas where this disorder occurs the most. This map shows the locations of people with progeria and it seems that it is more common in certain areas, but in reality, it can occur in all areas equally.
Support Groups
Progeria Research Foundation
The Progeria Research Foundation was founded in 1998 to address the need for
information in the progeria community. PRF funds and conducts research,
maintains a registry of progeria patients, and forms support chapters throughout
the country. Its current chapters are California, Michigan, Ohio, Pennsylvania,
Southwest Michigan, and Kentucky. Each chapter is led by the family members of a
child with progeria. PRF has links on their website to each chapter. PRF seeks
to start more chapters and encourages families to contact the organization.
Progeria Research Foundation, Inc.
P.O. Box 3453
Peabody, MA
01961-3453
978-535-2594
progeriaresearch.org
Progeria.be
Progeria.be is the web site of a family whose children have progeria. This
site lists other sites of families--including the chapter sites for
the Progeria Research Foundation--and links to services in other countries.
Progeria.be tracks information about families around the world and posts it to
this site. The site invites other families to get
involved.
Progeria.be
progeria.be/index_EN.php
Genetic Alliance
Genetic Alliance, primarily an advocacy organization, works in the area of
genetics. Their online roundtable, called MemberForum, provides a place for
support group leaders to meet and talk. Genetic Alliance offers one-on-one
assistance to help individuals develop support groups and other resources.
Genetic Alliance also contracts with the U.S. Department of Health and Human Services to serve as the National Consumer Center for
Genetics Resources and Services
Genetic Alliance
4301 Connecticut Avenue NW, Suite 404
Washington, DC
20008-2369
202-966-5557
geneticalliance.org
The Progeria Research Foundation was founded in 1998 to address the need for
information in the progeria community. PRF funds and conducts research,
maintains a registry of progeria patients, and forms support chapters throughout
the country. Its current chapters are California, Michigan, Ohio, Pennsylvania,
Southwest Michigan, and Kentucky. Each chapter is led by the family members of a
child with progeria. PRF has links on their website to each chapter. PRF seeks
to start more chapters and encourages families to contact the organization.
Progeria Research Foundation, Inc.
P.O. Box 3453
Peabody, MA
01961-3453
978-535-2594
progeriaresearch.org
Progeria.be
Progeria.be is the web site of a family whose children have progeria. This
site lists other sites of families--including the chapter sites for
the Progeria Research Foundation--and links to services in other countries.
Progeria.be tracks information about families around the world and posts it to
this site. The site invites other families to get
involved.
Progeria.be
progeria.be/index_EN.php
Genetic Alliance
Genetic Alliance, primarily an advocacy organization, works in the area of
genetics. Their online roundtable, called MemberForum, provides a place for
support group leaders to meet and talk. Genetic Alliance offers one-on-one
assistance to help individuals develop support groups and other resources.
Genetic Alliance also contracts with the U.S. Department of Health and Human Services to serve as the National Consumer Center for
Genetics Resources and Services
Genetic Alliance
4301 Connecticut Avenue NW, Suite 404
Washington, DC
20008-2369
202-966-5557
geneticalliance.org
SOURCES
http://www.ehow.com/list_6398145_support-groups-progeria_.html
http://www.genome.gov/10001204
http://www.nlm.nih.gov/medlineplus/geneticdisorders.htm
http://dir.yahoo.com/health/diseases_and_conditions/genetic_disorders/
http://learn.genetics.utah.edu/content/disorders/whataregd/
http://www.knowyourgenes.org/genetic_diseases.shtml?_kk=list%20of%20genetic%20diseases&_kt=3e666340-f928-469d-9000-b1224bc2ad28&gclid=CKLO5r3Di7YCFQyDnQodSzYA7A
http://www.ornl.gov/sci/techresources/Human_Genome/medicine/assist.shtml
http://kidshealth.org/teen/your_body/health_basics/genes_genetic_disorders.html
http://www.mayoclinic.com/health/genetic-disorders/DS00549
http://www.genome.gov/10001204
http://www.nlm.nih.gov/medlineplus/geneticdisorders.htm
http://dir.yahoo.com/health/diseases_and_conditions/genetic_disorders/
http://learn.genetics.utah.edu/content/disorders/whataregd/
http://www.knowyourgenes.org/genetic_diseases.shtml?_kk=list%20of%20genetic%20diseases&_kt=3e666340-f928-469d-9000-b1224bc2ad28&gclid=CKLO5r3Di7YCFQyDnQodSzYA7A
http://www.ornl.gov/sci/techresources/Human_Genome/medicine/assist.shtml
http://kidshealth.org/teen/your_body/health_basics/genes_genetic_disorders.html
http://www.mayoclinic.com/health/genetic-disorders/DS00549