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Hutchinson-Gilford progeria syndrome

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Hutchinson-Gilford progeria syndrome

(hŭch′ĭn-sən-gĭl′fərd)
n.
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.

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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
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"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.
Older dads also have a higher risk of fathering children with rare mutations that cause dwarfism or a premature aging disease called Hutchinson-Gilford progeria syndrome.
Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS), is a rare and fatal genetic condition characterised by accelerated ageing in children.
While investigators continue to debate exactly how well this so-called Hutchinson-Gilford progeria syndrome mirrors normal aging, many are convinced that the newly discovered mutation could provide insight into the process.
Hutchinson-Gilford progeria syndrome, also known simply as progeria--Greek for early aging--affects only an estimated 1 in 4 million children.
(NASDAQ: EIGR) has received minutes from a pre-investigational new drug (pre-IND) meeting with the Division of Gastroenterology and Inborn Errors Products of the US Food and Drug Administration for lonafarnib in the treatment of Hutchinson-Gilford Progeria Syndrome (HGPS or Progeria), the company said.
Progeria, also known as Hutchinson-Gilford Progeria Syndrome, is a rare and rapidly fatal genetic condition of accelerated aging in children caused by a point mutation in the lamin A gene yielding the farnesylated aberrant protein, progerin.
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