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.

Progeria Research Foundation, Inc.

Our mission is to discover treatments and the cure for Progeria and its aging-related disorders. Progeria is a fatal, “rapid aging” disease that afflicts children, who die of heart disease at an average age of 13 years - the same heart disease that affects millions of normal aging adults.

Last Updated: 5 Dec 2012

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Progeria Research Foundation, Inc.

Our mission is to discover treatments and the cure for Progeria and its aging-related disorders. Progeria is a fatal, “rapid aging” disease that afflicts children, who die of heart disease at an average age of 13 years - the same heart disease that affects millions of normal aging adults.

http://www.progeriaresearch.org

Last Updated: 5 Dec 2012

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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 102 free, full-text research articles on human participants. First 3 results:

Mechanisms controlling the smooth muscle cell death in progeria via down-regulation of poly(ADP-ribose) polymerase 1.
 

Author(s): Haoyue Zhang, Zheng-Mei Xiong, Kan Cao

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2014 Jun;111(22):E2261-70.

 

Hutchinson-Gilford progeria syndrome (HGPS) is a severe human premature aging disorder caused by a lamin A mutant named progerin. Death occurs at a mean age of 13 y from cardiovascular problems. Previous studies revealed loss of vascular smooth muscle cells (SMCs) in the media of ...

Last Updated: 14 Jun 2014

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An upregulation in the expression of vanilloid transient potential channels 2 enhances hypotonicity-induced cytosolic Ca²⁺ rise in human induced pluripotent stem cell model of Hutchinson-Gillford Progeria.
 

Author(s): Chun-Yin Lo, Yung-Wui Tjong, Jenny Chung-Yee Ho, Chung-Wah Siu, Sin-Ying Cheung, Nelson L Tang, Shan Yu, Hung-Fat Tse, Xiaoqiang Yao

Journal:

 

Hutchinson-Gillford Progeria Syndrome (HGPS) is a fatal genetic disorder characterized by premature aging in multiple organs including the skin, musculoskeletal and cardiovascular systems. It is believed that an increased mechanosensitivity of HGPS cells is a causative factor for ...

Last Updated: 29 Jan 2014

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Prelamin A causes progeria through cell-extrinsic mechanisms and prevents cancer invasion.
 

Author(s): Jorge de la Rosa, José M P Freije, Rubén Cabanillas, Fernando G Osorio, Mario F Fraga, M Soledad Fernández-García, Roland Rad, Víctor Fanjul, Alejandro P Ugalde, Qi Liang, Haydn M Prosser, Allan Bradley, Juan Cadiñanos, Carlos López-Otín

Journal: Nat Commun. 2013 ;4():2268.

 

Defining the relationship between ageing and cancer is a crucial but challenging task. Mice deficient in Zmpste24, a metalloproteinase mutated in human progeria and involved in nuclear prelamin A maturation, recapitulate multiple features of ageing. However, their short lifespan and ...

Last Updated: 6 Aug 2013

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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 12 free, full-text review articles on human participants. First 3 results:

Hutchinson-Gilford progeria syndrome through the lens of transcription.
 

Author(s): Miron Prokocimer, Rachel Barkan, Yosef Gruenbaum

Journal: Aging Cell. 2013 Aug;12(4):533-43.

 

Lamins are nuclear intermediate filaments. In addition to their structural roles, they are implicated in basic nuclear functions such as chromatin organization, DNA replication, transcription, DNA repair, and cell-cycle progression. Mutations in human LMNA gene cause several diseases ...

Last Updated: 16 Jul 2013

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Targeting protein prenylation in progeria.
 

Author(s): Stephen G Young, Shao H Yang, Brandon S J Davies, Hea-Jin Jung, Loren G Fong

Journal: Sci Transl Med. 2013 Feb;5(171):171ps3.

 

A clinical trial of a protein farnesyltransferase inhibitor (lonafarnib) for the treatment of Hutchinson-Gilford progeria syndrome (HGPS) was recently completed. Here, we discuss the mutation that causes HGPS, the rationale for inhibiting protein farnesyltransferase, the potential ...

Last Updated: 7 Feb 2013

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Rapamycin activates autophagy in Hutchinson-Gilford progeria syndrome: implications for normal aging and age-dependent neurodegenerative disorders.
 

Author(s): John J Graziotto, Kan Cao, Francis S Collins, Dimitri Krainc

Journal: Autophagy. 2012 Jan;8(1):147-51.

 

While rapamycin has been in use for years in transplant patients as an antirejection drug, more recently it has shown promise in treating diseases of aging, such as neurodegenerative disorders and atherosclerosis. We recently reported that rapamycin reverses the cellular phenotype ...

Last Updated: 19 Mar 2012

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Study of Zoledronic Acid, Pravastatin, and Lonafarnib for Patients With Progeria
 

Status: Recruiting

Condition Summary: Progeria

 

Last Updated: 7 Aug 2014

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