Progeria (Hutchinson Gilford Syndrome)

An abnormal congenital condition, associated with defects in the LAMIN TYPE A gene, which is characterized by premature aging in children, where all the changes of cell senescence occur. It is manifested by premature greying; hair loss; hearing loss (DEAFNESS); cataracts (CATARACT); ARTHRITIS; OSTEOPOROSIS; DIABETES MELLITUS; atrophy of subcutaneous fat; skeletal hypoplasia; elevated urinary HYALURONIC ACID; and accelerated ATHEROSCLEROSIS. Many affected individuals develop malignant tumors, especially SARCOMA.

Also Known As:

Networked: 261 relevant articles (6 outcomes, 16 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Werner Syndrome (Werner's Syndrome)
2.	Premature Aging
3.	Down Syndrome (Down's Syndrome)
4.	Neoplasms (Cancer)
5.	Cockayne Syndrome (Syndrome, Cockayne)

Experts

1.	Young, Stephen G: 12 articles (05/2013 - 07/2004)
2.	Fong, Loren G: 10 articles (05/2013 - 09/2005)
3.	Stewart, Colin L: 8 articles (01/2015 - 06/2003)
4.	Lévy, Nicolas: 6 articles (08/2015 - 06/2003)
5.	Wehnert, Manfred: 6 articles (01/2015 - 01/2005)
6.	Kennedy, Brian K: 6 articles (09/2013 - 01/2005)
7.	Osorio, Fernando G: 5 articles (08/2015 - 02/2009)
8.	De Sandre-Giovannoli, Annachiara: 5 articles (08/2015 - 06/2003)
9.	López-Otín, Carlos: 5 articles (08/2015 - 02/2009)
10.	Djabali, Karima: 5 articles (02/2015 - 02/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Progeria:

1.	prelamin AIBA 01/01/2009 - "Different prelamin A forms accumulate in human fibroblasts: a study in experimental models and progeria." 06/01/2013 - "In contrast to reported RD patients with LMNA mutations, LMNA p.R435C is not located at the cleavage site necessary for processing of prelamin A by ZMPSTE24 and leads to a distinct phenotype combining clinical features of Restrictive Dermopathy, Mandibuloacral Dysplasia and Hutchinson-Gilford Progeria. " 01/01/2013 - "Accumulation of prelamin A compromises NF-κB-regulated B-lymphopoiesis in a progeria mouse model." 01/01/2013 - "Mice deficient in Zmpste24, a metalloproteinase mutated in human progeria and involved in nuclear prelamin A maturation, recapitulate multiple features of ageing. " 01/01/2011 - "Autophagic degradation of farnesylated prelamin A as a therapeutic approach to lamin-linked progeria."
2.	Lamin Type A (Lamin A)IBA 03/01/2006 - "These studies suggest a new therapeutic strategy for treating progeria and other lamin A diseases." 01/01/2015 - "Hutchinson-Gilford progeria (HGPS) is a premature ageing syndrome caused by a mutation in LMNA, resulting in a truncated form of lamin A called progerin. " 06/01/2014 - "Nuclear envelope (NE) architecture and aging have been associated since the discovery that certain human progeria diseases are due to perturbations in processing of lamin A protein, generating alterations in NE morphology. " 01/01/2014 - "A mouse model of progeria derived by insertion of the human mutant LMNA gene (mLMNA), producing mutant lamin A, shows loss of smooth muscle cells in the media of the ascending aorta. " 09/01/2013 - "Given that deletion of lamin A exon 9 in the mouse (Lmna(Δ9/Δ9)) results in a progeria phenotype, we tested if this domain is important for genome integrity. "
3.	EnzymesIBA 04/02/1999 - "Two H2O2 removing enzymes demonstrated a significant reduction in progeria cells: only 50% of normal CAT activity and 30% of normal GPX activity can be detected in progeria cells. " 04/02/1999 - "Altered levels of antioxidant enzymes were found in progeria cells. " 04/02/1999 - "Altered levels of primary antioxidant enzymes in progeria skin fibroblasts." 03/01/1978 - "Heat-labile enzymes in circulating erythrocytes of a progeria family." 06/19/1975 - "Heat-labile enzymes in skin fibroblasts from subjects with progeria."
4.	Farnesyltranstransferase (Farnesyltransferase)IBA 02/01/2010 - "Progeria, the nucleolus and farnesyltransferase inhibitors." 06/01/2008 - "Increased mechanosensitivity and nuclear stiffness in Hutchinson-Gilford progeria cells: effects of farnesyltransferase inhibitors." 10/14/2008 - "A farnesyltransferase inhibitor prevents both the onset and late progression of cardiovascular disease in a progeria mouse model." 03/17/2006 - "A protein farnesyltransferase inhibitor ameliorates disease in a mouse model of progeria." 10/15/2005 - "Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition."
5.	Adenosine Triphosphate (ATP)IBA 01/01/2010 - "Notably, in our investigations the ATP content of progeria fibroblasts was only approximately 50% of that found in healthy controls. " 01/01/2010 - "However, this did not prevent a drop in the ATP content of progeria fibroblasts. " 04/01/2014 - "Whereas all three treatments significantly improved misshapen cell nuclei typically associated with progeria, differences were observed in terms of functional improvement in prelamin A farnesylation, progerin expression, defective cell proliferation, premature osteogenic differentiation, and ATP production. " 02/01/1978 - "No significant differences were found in the Km and Vmax for phenylalanine or ATP in progeria cells compared with controls. "
6.	p21(ras) farnesyl-protein transferase (protein farnesyltransferase)IBA 02/01/2010 - "Assessing the efficacy of protein farnesyltransferase inhibitors in mouse models of progeria." 10/01/2006 - "This concept led to the hypothesis that protein farnesyltransferase inhibitors (FTIs) might ameliorate the disease phenotypes of progeria in mouse models. " 10/01/2006 - "Protein farnesyltransferase inhibitors and progeria."
7.	Staphylococcal Protein A (A, Protein)IBA 03/17/2006 - "A protein farnesyltransferase inhibitor ameliorates disease in a mouse model of progeria."
8.	Lovastatin (Mevacor)FDA LinkGeneric 12/01/2013 - "A combination of lovastatin and N6-isopentenyladenosine significantly improved nuclear shape in fibroblast cell lines from atypical progeria patients. "
9.	Reactive Oxygen Species (Oxygen Radicals)IBA 04/02/1999 - "In this study, the profile of primary antioxidant enzymes that scavenge reactive oxygen species (ROS) was examined for the first time in human skin fibroblasts from progeria, a premature aging disease. " 01/01/2003 - "Among the top achievements of the gerontology are: the identification of longevity genes in some animal species; Werner's progeria gene cloning; studies on genetic determinants of human longevity; discovery on evolution origin of species life span and the trade off with the reproduction; the theory of marginotomy and identification of the role of telomere and telomerase in cellular senescence; significant increase in the replicative life span of transfected with hTERT cells in vitro; the development of the free radical theory of aging; the evidence of the role of reactive oxygen species in DNA damage; the evidence of life span extension in genetically modified (transgenic, knockout or mutant) animals; the studies on the role of somatic mutations and DNA repair in mechanisms of aging, apoptosis and malignant transformation; the evidence of the life span extension by the exposure to calorie restriction diet from worms to primates and discovery of key mechanisms of the phenomena; the studies on the role of the pineal gland in the aging and the evidence of geroprotective activity of pineal peptides and melatonin. "
10.	Hutchinson Gilford progeria syndromeIBA 11/01/2015 - "Progeria, or Hutchinson-Gilford progeria syndrome (HGPS), is a rare, fatal genetic disease characterized by an appearance of accelerated aging in children. " 08/01/2015 - "Genetic and pharmacological NF-κB inhibitory strategies significantly increase the reprogramming efficiency of fibroblasts from Néstor-Guillermo progeria syndrome and Hutchinson-Gilford progeria syndrome patients, as well as from normal aged donors. " 12/01/2011 - "Progeria, also known as HGPS (Hutchinson-Gilford progeria syndrome), is a rare fatal genetic disease characterized by an appearance of accelerated aging in children. " 10/01/2007 - "We collected and analyzed longitudinal medical information, both retrospectively and prospectively, from a total of 41 children with Hutchinson-Gilford progeria syndrome spanning 14 countries, from the Progeria Research Foundation Medical and Research Database at the Brown University Center for Gerontology. " 01/01/2007 - "Progeria of stem cells: stem cell exhaustion in Hutchinson-Gilford progeria syndrome."

Therapies and Procedures

1.	Transplants (Transplant) 11/01/2009 - "We present the case of a 47-year-old female suffering from progeria who developed an eyelid Merkel cell carcinoma (MCC) following cyclosporine treatment for a corneal transplant. "
2.	Prostheses and Implants (Prosthesis) 08/01/2009 - "Implant supported prosthesis in a patient with progeria: case report."
3.	Transplantation (Transplant Recipients) 10/01/2015 - "Although transplantation of muscle-derived stem/progenitor cells extended the health span and life span of progeria mice, such effects in normal animals were not confirmed. "
4.	Therapeutics 01/16/2015 - "We also give an account of the current status of prenyltransferase inhibitors as potential therapeutics against several diseases including cancers, progeria, aging, parasitic diseases, and bacterial and viral infections. "
5.	Oral Surgery (Maxillofacial Surgery) 01/01/2015 - "There are no limitations to conduct any dental procedures in progeria patients, however, extreme caution must be exercised during oral surgery due to the inelasticity of tissues and dermal atrophy. "