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

Non-syndromic cardiac progeria in a patient with the rare pathogenic p.Asp300Asn variant in the LMNA gene.
 

Author(s): Ali J Marian

Journal:

 

Mutations in LMNA gene, encoding Lamin A/C, cause a diverse array of phenotypes, collectively referred to as laminopathies. The most common manifestation is dilated cardiomyopathy (DCM), occurring in conjunction with variable skeletal muscle involvement but without involvement of ...

Last Updated: 31 Dec 1969

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Reprogramming progeria fibroblasts re-establishes a normal epigenetic landscape.
 

Author(s): Zhaoyi Chen, Wing Y Chang, Alton Etheridge, Hilmar Strickfaden, Zhigang Jin, Gareth Palidwor, Ji-Hoon Cho, Kai Wang, Sarah Y Kwon, Carole Doré, Angela Raymond, Akitsu Hotta, James Ellis, Rita A Kandel, F Jeffrey Dilworth, Theodore J Perkins, Michael J Hendzel, David J Galas, William L Stanford

Journal: Aging Cell. 2017 Aug;16(4):870-887.

 

Ideally, disease modeling using patient-derived induced pluripotent stem cells (iPSCs) enables analysis of disease initiation and progression. This requires any pathological features of the patient cells used for reprogramming to be eliminated during iPSC generation. Hutchinson-Gilford ...

Last Updated: 31 Dec 1969

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Progerin-Induced Replication Stress Facilitates Premature Senescence in Hutchinson-Gilford Progeria Syndrome.
 

Author(s): Keith Wheaton, Denise Campuzano, Weili Ma, Michal Sheinis, Brandon Ho, Grant W Brown, Samuel Benchimol

Journal:

 

Hutchinson-Gilford progeria syndrome (HGPS) is caused by a mutation in LMNA that produces an aberrant lamin A protein, progerin. The accumulation of progerin in HGPS cells leads to an aberrant nuclear morphology, genetic instability, and p53-dependent premature senescence. How p53 ...

Last Updated: 31 Dec 1969

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

Hutchinson-Gilford Progeria Syndrome: A premature aging disease caused by LMNA gene mutations.
 

Author(s): Susana Gonzalo, Ray Kreienkamp, Peter Askjaer

Journal: Ageing Res. Rev.. 2017 Jan;33():18-29.

 

Products of the LMNA gene, primarily lamin A and C, are key components of the nuclear lamina, a proteinaceous meshwork that underlies the inner nuclear membrane and is essential for proper nuclear architecture. Alterations in lamin A and C that disrupt the integrity of the nuclear ...

Last Updated: 31 Dec 1969

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Potential therapeutic effects of the MTOR inhibitors for preventing ageing and progeria-related disorders.
 

Author(s): Camilla Evangelisti, Vittoria Cenni, Giovanna Lattanzi

Journal: Br J Clin Pharmacol. 2016 11;82(5):1229-1244.

 

The mammalian target of rapamycin (mTOR) pathway is an highly conserved signal transduction axis involved in many cellular processes, such as cell growth, survival, transcription, translation, apoptosis, metabolism, motility and autophagy. Recently, this signalling pathway has come ...

Last Updated: 31 Dec 1969

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Molecular insights into the premature aging disease progeria.
 

Author(s): Sandra Vidak, Roland Foisner

Journal: Histochem. Cell Biol.. 2016 Apr;145(4):401-17.

 

Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare premature aging disease presenting many features resembling the normal aging process. HGPS patients die before the age of 20 years due to cardiovascular problems and heart failure. HGPS is linked to mutations in the ...

Last Updated: 31 Dec 1969

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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: 1 Jun 2017

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