Linked Life Data

10193444

Source:http://linkedlifedata.com/resource/pubmed/id/10193444

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1999-4-21
pubmed:abstractText
Hermansky-Pudlak Syndrome (HPS), a recessively inherited disease in humans, affects the biosynthesis/processing of the related intracellular organelles: lysosomes, melanosomes, and platelet dense granules. The disease is multigenic in both humans and mice where 14 separate genes have been demonstrated to be causative. Patients often die prematurely with severe lung abnormalities. Patients with the related Chediak-Higashi Syndrome (CHS) likewise have significantly reduced life spans. Long-term survival and lung histomorphology were analyzed in a pilot experiment involving several genetically defined singly and doubly mutant mouse HPS mutants and the beige CHS mutant to determine whether these parameters are altered in the mouse models. The mutants differed widely in both longevity and lung architecture. Mice doubly homozygous for the pale ear and ruby eye or for the muted and pearl genes had the shortest life spans with none surviving the two-year experimental duration. Life spans were similarly severely reduced in the beige and gunmetal mutants. Intermediate life spans were apparent in the pearl, pallid, and cocoa mutants whereas minimal effects were noted in ruby eye, muted, light ear, and cocoa mutants. Enlarged air spaces were noted in histologic sections of lungs of several of the mutants. For the most part, the severity of lung abnormalities was inversely proportional to the long-term survival of these various mutants, suggesting that lung pathology may contribute to mortality, as has been suggested for human HPS patients.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0037-9727
pubmed:author
pubmed:issnType
Print
pubmed:volume
220
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
162-8
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1999
pubmed:articleTitle
Survival and lung pathology of mouse models of Hermansky-Pudlak syndrome and Chediak-Higashi syndrome.
pubmed:affiliation
Department of Laboratoy Animal Resource, Roswell Park Cancer Institute, Buffalo, New York 14263, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S.