Molecular studies of lipoprotein lipase

Update item information
Publication Type thesis
School or College School of Medicine
Department Pathology
Author Shuhua, Zhang
Title Molecular studies of lipoprotein lipase
Date 1991-06
Description Molecular defects in the lipoprotein lipase (LPL) gene account for a significant proportion of the occurrence of the massive hypertriglyceridemia and other clinical manifestations of the chylomicronemia syndrome. Furthermore, some published reports suggest that the heterozygous state for LPL deficiency leads to a reduced capacity to clear triglyceride-rice lipoproteins from plasma; when this clearance is saturated through dietary or hormonal factors, moderate hypertriglyceridemia may be observed. The LPL gene of four hypertriglyceridemia subjects was examined for the presence of molecular variants. In one subject with the classical presentation of the chylomicronemia syndrome and documented deficiency of LPL activity in post heparin plasma, we have identified a mutation leading to the substitution of glutamic acid for glycine at residue 195 of the mature enzyme. The patient was homozygous for this mutation. By in vitro mutagenesis and transient expression in cultured mammalian cells, it was shown that the protein encoded by this mutated sequence lacked catalytic activity, and data on the homologous enzyme pancreatic lipase indicate that this mutation occurred within the catalytic domain of the enzyme. By contrast, we identified two other mutation in two of the three other hypertriglyceridemic subjects with moderate hypertriglyceridemia that did not appear of functional significance. Therefore, we have found no evidence of role of molecular defects of LPL in these milder cases.
Type Text
Publisher University of Utah
Subject Genetics; Genomic DNA
Subject MESH Hypertriglyceridemia; Hypolipoproteinemia; Lipoprotein Lipase Deficiency, Familial
Dissertation Institution University of Utah
Dissertation Name MS
Language eng
Relation is Version of Digital reproduction of "Molecular studies of lipoprotein lipase." Spencer S. Eccles Health Sciences Library. Print version of "Molecular studies of lipoprotein lipase." available at J. Willard Marriott Library Special Collection. QP6.5 1991 .S55.
Rights Management © Zhang Shuhua.
Format Medium application/pdf
Format Extent 881,142 bytes
Identifier undthes,5282
Source Original: University of Utah Spencer S. Eccles Health Sciences Library (no longer available).
Master File Extent 881,225 bytes
ARK ark:/87278/s6kd20pn
Setname ir_etd
Date Created 2012-04-24
Date Modified 2012-04-24
ID 190733
Reference URL