Progeria

Common Name(s)

Progeria, Hutchinson-Gilford syndrome

Progeria is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood. The most severe form of the disease is Hutchinson-Gilford progeria syndrome. As newborns, children with progeria usually appear normal. However, within a year, their growth rate slows and they soon are much shorter and weigh much less than others their age. While possessing normal intelligence, affected children develop a distinctive appearance characterized by baldness, aged-looking skin, a pinched nose, and a small face and jaw relative to head size. They also often suffer from symptoms typically seen in much older people like stiffness of joints, hip dislocations and severe, progressive cardiovascular disease. Some children with progeria have undergone coronary artery bypass surgery and/or angioplasty in attempts to ease the life-threatening cardiovascular complications caused by progressive atherosclerosis. However, there currently is no treatment or cure for the underlying condition. Death occurs on average at age 13, usually from heart attack or stroke.  Progeria is caused by mutations in the LMNA gene.  
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Progeria" for support, advocacy or research.

The Progeria Research Foundation, Inc.

Our mission is to discover treatments and the cure for Progeria and its aging-related disorders, including heart disease. Progeria is a fatal, “rapid aging” disease that afflicts children, who die of heart disease at an average age of 14 years - the same heart disease that affects millions of normal aging adults.

Last Updated: 24 Feb 2016

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Progeria" for support, advocacy or research.

The Progeria Research Foundation, Inc.

Our mission is to discover treatments and the cure for Progeria and its aging-related disorders, including heart disease. Progeria is a fatal, “rapid aging” disease that afflicts children, who die of heart disease at an average age of 14 years - the same heart disease that affects millions of normal aging adults.

http://www.progeriaresearch.org

Last Updated: 24 Feb 2016

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Progeria" returned free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Progeria" returned 16 free, full-text review articles on human participants. First 3 results:

DNA repair defects and genome instability in Hutchinson-Gilford Progeria Syndrome.
 

Author(s): Susana Gonzalo, Ray Kreienkamp

Journal: Curr. Opin. Cell Biol.. 2015 Jun;34():75-83.

 

The integrity of the nuclear lamina has emerged as an important factor in the maintenance of genome stability. In particular, mutations in the LMNA gene, encoding A-type lamins (lamin A/C), alter nuclear morphology and function, and cause genomic instability. LMNA gene mutations are ...

Last Updated: 3 Aug 2015

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Barrier to Autointegration Factor (BANF1): interwoven roles in nuclear structure, genome integrity, innate immunity, stress responses and progeria.
 

Author(s): Augusta Jamin, Matthew S Wiebe

Journal: Curr. Opin. Cell Biol.. 2015 Jun;34():61-8.

 

The Barrier to Autointegration Factor (BAF or BANF1) is an abundant, highly conserved DNA binding protein. BAF is involved in multiple pathways including mitosis, nuclear assembly, viral infection, chromatin and gene regulation and the DNA damage response. BAF is also essential for ...

Last Updated: 3 Aug 2015

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Progeria: a rare genetic premature ageing disorder.
 

Author(s): Jitendra Kumar Sinha, Shampa Ghosh, Manchala Raghunath

Journal: Indian J. Med. Res.. 2014 May;139(5):667-74.

 

Progeria is characterized by clinical features that mimic premature ageing. Although the mutation responsible for this syndrome has been deciphered, the mechanism of its action remains elusive. Progeria research has gained momentum particularly in the last two decades because of the ...

Last Updated: 16 Jul 2014

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Phase I/II Trial of Everolimus in Combination With Lonafarnib in Progeria
 

Status: Recruiting

Condition Summary: Progeria

 

Last Updated: 23 Dec 2015

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