Source:http://linkedlifedata.com/resource/pubmed/id/16431216
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rdf:type | |
lifeskim:mentions |
umls-concept:C0017337,
umls-concept:C0020557,
umls-concept:C0023816,
umls-concept:C0023817,
umls-concept:C0030705,
umls-concept:C0040711,
umls-concept:C0076425,
umls-concept:C0149521,
umls-concept:C0205082,
umls-concept:C0205314,
umls-concept:C0242610,
umls-concept:C0679622,
umls-concept:C0919524,
umls-concept:C1273518,
umls-concept:C1555721,
umls-concept:C1705846,
umls-concept:C1706204
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pubmed:issue |
1
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pubmed:dateCreated |
2006-1-24
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pubmed:abstractText |
A patient with severe hypertriglyceridemia and recurrent pancreatitis was found to have significantly decreased lipoprotein lipase (LPL) activity and normal apolipoprotein C-II concentration in post-heparin plasma. DNA analysis of the LPL gene revealed two mutations, one of which was a novel homozygous G-->C substitution, resulting in the conversion of a translation initiation codon methionine to isoleucine (LPL-1). The second was the previously reported heterozygous substitution of glutamic acid at residue 242 with lysine (LPL-242). In vitro expression of both mutations separately or in combination demonstrated that LPL-1 had approximately 3% protein mass and 2% activity, whereas LPL-242 had undetectable activity but normal mass. The combined mutation LPL-1-242 exhibited similar changes as for LPL-1, with markedly reduced mass, and for LPL-242, with undetectable activity. These results suggest that the homozygous initiator codon mutation rather than the heterozygous LPL-242 alteration was mainly responsible for the patient phenotypes.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
0006-291X
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:day |
3
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pubmed:volume |
341
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
82-7
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:16431216-Adolescent,
pubmed-meshheading:16431216-Codon, Initiator,
pubmed-meshheading:16431216-DNA Mutational Analysis,
pubmed-meshheading:16431216-Humans,
pubmed-meshheading:16431216-Hyperlipoproteinemia Type I,
pubmed-meshheading:16431216-Hyperlipoproteinemia Type IV,
pubmed-meshheading:16431216-Lipoprotein Lipase,
pubmed-meshheading:16431216-Mutation,
pubmed-meshheading:16431216-Pancreatitis,
pubmed-meshheading:16431216-Protein Biosynthesis,
pubmed-meshheading:16431216-Recurrence
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pubmed:year |
2006
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pubmed:articleTitle |
A novel substitution at the translation initiator codon (ATG-->ATC) of the lipoprotein lipase gene is mainly responsible for lipoprotein lipase deficiency in a patient with severe hypertriglyceridemia and recurrent pancreatitis.
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pubmed:affiliation |
Department of Pathophysiology, School of Medicine, Shandong University, Jinan, PR China.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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