Hutchinson-Gilford progeria syndrome


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Hutchinson-Gilford progeria syndrome

(hŭch′ĭn-sən-gĭl′fərd)
n.

ZMPSTE24

A gene on chromosome 1p34 that encodes a member of the M48A peptidase amily, which is a zinc metalloproteinase involved in the post-translational proteolytic cleavage of carboxy terminal residues of farnesylated prelamin A to form mature lamin A.
 
Molecular pathology
ZMPSTE24 mutations are linked to mandibuloacral dysplasia and restrictive dermopathy.
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References in periodicals archive ?
Urinary hyaluronic acid elevation in Hutchinson-Gilford progeria syndrome.
Collins' own research laboratory has discovered a number of important genes, including those responsible for cystic fibrosis, neurofibromatosis, Huntington's disease, a familial endocrine cancer syndrome, and most recently, genes for adult onset (type 2) diabetes and the gene that causes Hutchinson-Gilford progeria syndrome.
Having a new tool to study aging could help us make new discoveries, for example to treat genetic predispositions where aging starts earlier, such as Hutchinson-Gilford progeria syndrome," she says.
Hutchinson-Gilford Progeria Syndrome is a genetic disease characterised by the dramatic, rapid appearance of ageing, starting from childhood.