Hutchinson-Gilford progeria syndrome is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood. Affected children typically look normal at birth and in early infancy, but then grow more slowly than other children and do not gain weight at the expected rate (failure to thrive). They develop a characteristic facial appearance including prominent eyes, a thin nose with a beaked tip, thin lips, a small chin, and protruding ears. Hutchinson-Gilford progeria syndrome also causes hair loss (alopecia), aged-looking skin, joint abnormalities, and a loss of fat under the skin (subcutaneous fat). This condition does not affect intellectual development or the development of motor skills such as sitting, standing, and walking.
Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome. The LMNA gene provides instructions for making a protein called lamin A. This protein plays an important role in determining the shape of the nucleus within cells. It is an essential scaffolding (supporting) component of the nuclear envelope, which is the membrane that surrounds the nucleus. Mutations that cause Hutchinson-Gilford progeria syndrome result in the production of an abnormal version of the lamin A protein. The altered protein makes the nuclear envelope unstable and progressively damages the nucleus, making cells more likely to die prematurely. Researchers are working to determine how these changes lead to the characteristic features of Hutchinson-Gilford progeria syndrome.
This condition is very rare; it is reported to occur in 1 in 4 million newborns worldwide. More than 130 cases have been reported in the scientific literature since the condition was first described in 1886.
Hutchinson-Gilford progeria syndrome is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The condition results from new mutations in the LMNA gene, and almost always occurs in people with no history of the disorder in their family.
Anahita Mojiri practices in Edmonton, Canada. Mojiri is rated as an Elite expert by MediFind in the treatment of Progeria. She is also highly rated in 1 other condition, according to our data. Her top areas of expertise are Progeria, Cerebral Hypoxia, and Von Willebrand Disease (VWD).
Peter Stenvinkel practices in Stockholm, Sweden. Stenvinkel is rated as an Elite expert by MediFind in the treatment of Progeria. He is also highly rated in 16 other conditions, according to our data. His top areas of expertise are End-Stage Renal Disease (ESRD), Chronic Kidney Disease, Calcinosis, Progeria, and Kidney Transplant.
Joann Pinkerton is an Obstetrics and Gynecologist in Charlottesville, Virginia. Pinkerton has been practicing medicine for over 42 years and is rated as a Distinguished expert by MediFind in the treatment of Progeria. She is also highly rated in 36 other conditions, according to our data. Her top areas of expertise are Osteopenia, Melorheostosis, Melorheostosis with Osteopoikilosis, and Vulvovaginitis. Pinkerton is currently accepting new patients.
Summary: This is a phase I/II dose-escalation trial of everolimus in combination with lonafarnib in Hutchinson-Gilford Progeria Syndrome (HGPS) and progeroid laminopathies (henceforth progeria). The study will be conducted at a single clinical site utilizing the Clinical and Translational Study Unit (CTSU) at Boston Children's Hospital. Lonafarnib will be administered at doses previously established in the...
Summary: Hutchinson-Gilford Progeria Syndrome (Progeria) is a rare autosomal disease that results in premature death at a median age of 13 years due to cardiovascular and cerebralvascular compromise. The mutation for this disease has been identified and results in a mutant form of lamin A that cannot be de-farnesylated. This study evaluates the combination of pravastain (a statin), lonafarnib (a farnesyltr...
Published Date: May 01, 2016Published By: National Institutes of Health