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A MOLECULAR VIEW OF LIPOPROTEIN LIPASE AND HEPATIC LIPASE STRUCTURE AND FUNCTION
Ameis, Detlev Kobayashi, Junji Davis, Richard C. Stahnke, Gisela Ben-Zeev, Osnat Wong, Howard Doolittle, Mark H. Will, Hans Greten, Heiner Schotz, Michael C.
Ameis, Detlev
Kobayashi, Junji
Davis, Richard C.
Stahnke, Gisela
Ben-Zeev, Osnat
Wong, Howard
Doolittle, Mark H.
Will, Hans
Greten, Heiner
Schotz, Michael C.
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Issue Date
1991
Submitted date
2024-03-27
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Abstract
Lipolytic enzymes play a pivotal role in the metabolism of triglyceride-rich lipoproteins circulating in plasma. The primary structures of many lipases have now been elucidated by molecular cloning of their cDNAs. To gain further insights into the molecular biology of lipoprotein lipase (LPL) and hepatic lipase (HL), we have determined their genomic organization. Both enzymes are members of a lipase gene family. Based on information derived from the genomic structures it is now possible to directly assess the molecular basis of familial LPLdefiency, a rare disorder of lipid metabolism involving the massive accumulation of chylomicrons in the plasma. Employing gene amplification techniques with LPL exon-specific oligonucleotide primers and direct DNA sequence determination, we have characterized a kindred with classical familial LPL-deficiency. Loss of LPL enzymatic activity was found to be caused by an amino acid substitution close to the putative active site.
Citation
Lipases : structure, mechanism and genetic engineering, 293 - 301
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Book chapter
conference paper
conference paper
Language
en
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Series/Report no.
GBF monographs ; Volume 16
ISSN
0930-4320
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ISBN
156081165X
3527283323
3527283323
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Attribution-NonCommercial-ShareAlike 4.0 International