Akademik

Progeria
A disorder characterized by premature aging. There is more than one type of progeria, and the mechanism behind these disorders is not yet known. Researchers have recently found dramatically lowered levels of antioxidant enzymes, particularly catalase and glutathione peroxidase, in patients with progeria. One theory is that lower levels of these enzymes permit cell damage by toxins and free radicals. There is currently no treatment for progeria, although gene therapy is being investigated.
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A condition of precocious aging with onset at birth or early childhood; characterized by growth retardation, a senile appearance with dry wrinkled skin, total alopecia, and birdlike facies; early occurrence of atherosclerosis in blood vessel s and premature death due to coronary artery disease; genetics unclear. SYN: Hutchinson-Gilford disease, Hutchinson-Gilford syndrome, premature senility syndrome. [pro- + G. geras, old age]
- p. with cataract, p. with microphthalmia SYN: dyscephalia mandibulo-oculofacialis.

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pro·ge·ria prō-'jir-ē-ə n a rare genetic disorder of childhood marked by slowed physical growth and characteristic signs (as baldness, wrinkled skin, and atherosclerosis) of rapid aging with death usu. occurring during puberty

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n.
a very rare condition in which all the signs of old age appear and progress in a child, so that 'senility' is reached before puberty.

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pro·ger·ia (pro-jērґe-ə) [pro- + ger- + -ia] an autosomal dominant syndrome of precocious senility, with affected children developing growth retardation, thinning skin, and fragile bones as young as 18 months, and death from stroke or coronary artery disease usually occurring by 13 years of age. It is caused by mutation in the LMNA gene (locus: 1q21.2), which encodes lamin A; the mutation causes partial activation of a cryptic splice site, leading to production of a truncated precursor to lamin A, called progerin, which accumulates at the nuclear envelope, dusrupting the nuclear scaffolding. Cf. infantilism. Called also Hutchinson-Gilford syndrome.

Medical dictionary. 2011.