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 ?
Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS), is a rare, fatal genetic disease characterized by an appearance of accelerated aging in children.
Rapamycin, an immunosuppressant drug, could treat Hutchinson-Gilford progeria syndrome (progeria), according to a recent study published in Science Translational Medicine.
Over the last few years, our knowledge of the molecular mechanisms underlying human aging has benefited from studies of premature-aging syndromes, such as Hutchinson-Gilford Progeria syndrome, that cause the early development of characteristics normally associated with advanced age," he added.