Synonyms
Definition
Hutchinson-Gilford progeria syndrome (HGPS), often referred to as progeria, is an extremely rare autosomal dominant neonatal condition. Children with HGPS have a small stature, distinctive facial features and rapid aging in many organ systems. Progeria is a segmental aging syndrome, developing many but not all the characteristics of premature aging.
Overview
The most deleterious age-related phenotypes of HGPS are atherosclerosis, lipodystrophy, and skeletal abnormalities. Cardiovascular disease is enviable in HGPS and is the primary cause of premature death at an average age of 14.6 years. The genetic change responsible for HGPS is a sporadic point mutation that leads to a cryptic splice site in the lamin A gene, LMNA. Lamin A is an intermediate filament in the nuclear lamina and confers structural integrity to the nuclear envelope. Lamin A has also been shown to play a role in the initiation of DNA replication, act as a mechanical sensor,...
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References
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Wheaton, K. (2019). Hutchinson-Gilford Progeria Syndrome. In: Gu, D., Dupre, M. (eds) Encyclopedia of Gerontology and Population Aging. Springer, Cham. https://doi.org/10.1007/978-3-319-69892-2_53-1
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DOI: https://doi.org/10.1007/978-3-319-69892-2_53-1
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