Linked Life Data

10660332

Source:http://linkedlifedata.com/resource/pubmed/id/10660332

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2000-2-1
pubmed:databankReference
pubmed:abstractText
Human hepatic lipase (hHL) plays an important role in hydrolysis of triglycerides from plasma lipoproteins. The enzyme also hydrolyzes HDL2 lipids resulting in smaller HDL particles with a lower cholesterol content and properties similar to HDL3. hHL is localized in liver sinusoids, ovary and adrenal gland. These findings propose an influence on processing of cholesterol. Here we report an insertion mutation in exon 3 of hHL. The 18 bp duplication contains an additional internal point mutation (GenBank-Accession #AF037404). The female mutation carrier suffered from severe adiposity with total cholesterol of 291,6mg/dl, HDL-cholesterol of 55,3mg/dl, LDL-cholesterol of 206,8mg/dl and triglycerides of 80,8mg/dl. Following cloning of a PCR-amplified fragment the mutation was confirmed by cycle sequencing. Sequence analysis revealed an inserted repeat of 18 nucleotides. Furthermore the patient carries an additional missense mutation A-->G at nucleotide 9 of the repeat which results in an amino acid exchange from Ile-->Val at codon 4 of the repeat. These data enable us to report the insertion of HisTyrThrValArgVal which might be responsible for the moderate shift in lipid metabolism of the heterozygous patient.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1059-7794
pubmed:author
pubmed:issnType
Print
pubmed:volume
12
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
216
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1998
pubmed:articleTitle
18 bp insertion/duplication with internal missense mutation in human hepatic lipase gene exon 3. Mutations in brief no. 181. Online.
pubmed:affiliation
Institute of Clinical Chemistry and Laboratory Medicine, Medical Faculty Carl Gustav Carus, Technical University, Dresden, Germany. otiebel@rcs.urz.tu-dresden.de
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S.