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Glycerol metabolism and the determination of triglycerides--clinical, biochemical and molecular findings in six subjects.

Artikel i vetenskaplig tidskrift
Författare Christina Hellerud
Alberto Burlina
Carlo Gabelli
James R Ellis
Per-Georg Nyholm
Sven Lindstedt
Publicerad i Clinical chemistry and laboratory medicine : CCLM / FESCC
Volym 41
Nummer/häfte 1
Sidor 46-55
ISSN 1434-6621
Publiceringsår 2003
Publicerad vid Institutionen för laboratoriemedicin
Institutionen för medicinsk och fysiologisk kemi
Institutionen för laboratoriemedicin, Avdelningen för klinisk kemi/transfusionsmedicin
Sidor 46-55
Språk en
Länkar dx.doi.org/10.1515/CCLM.2003.009
Ämnesord Adrenal Gland Diseases, genetics, Alleles, Alternative Splicing, Amino Acid Sequence, Child, Child, Preschool, DAX-1 Orphan Nuclear Receptor, DNA Primers, chemistry, DNA-Binding Proteins, genetics, Female, Genetic Heterogeneity, Glycerol, metabolism, Glycerol Kinase, deficiency, genetics, Humans, Hypertriglyceridemia, enzymology, genetics, Male, Middle Aged, Models, Molecular, Molecular Sequence Data, Mutation, Missense, Polymerase Chain Reaction, RNA, Messenger, genetics, metabolism, Receptors, Retinoic Acid, genetics, Repressor Proteins, Sequence Deletion, Sequence Homology, Amino Acid, Transcription Factors, genetics, Triglycerides, metabolism
Ämneskategorier Molekylärbiologi, Medicinsk bioteknologi (med inriktning mot cellbiologi (inklusive stamcellsbiologi), molekylärbiologi, mikrobiologi, biokemi eller biofarmaci)

Sammanfattning

Recent recommendations in the National Cholesterol Education Program Expert Panel on Detection, Evaluation and Treatment of High Blood Cholesterol in Adults (ATPIII) are expected to increase the number of triglyceride (TG) determinations and consequently the risk of misinterpretation of "non-blanked" results with co-determination of free glycerol. Glycerol-kinase deficiency (GKD) is one cause of falsely elevated TG results. The natural history of isolated GKD with symptom-free cases and cases with e.g. severe episodes of hypoglycemia and/or ketoacidosis challenges the laboratories to identify cases of GKD and family members at risk. "Blanked" methods reporting both glycerol and TG concentration are therefore desirable. Molecular studies of the glycerol kinase (GK) and DAX1 genes were performed on four cases of "persistent hypertriglyceridemia" found in an Italian population and on two pediatric cases with high serum glycerol concentration. Two new missense mutations were found (C358Y, T961). Molecular modeling on GK from E. coli, indicate that these mutations are located in parts of the enzyme important for enzyme formation or activity. One splice-site mutation, (IVS9A-1G>A), was found in two brothers. Splice-junction analysis indicates that it destroys the splice site and results in a mixture of mRNA. Deletion of the GK and DAX1 genes was found in one child with symptoms of adrenal failure. A female with glycerolemia and glyceroluria had normal GK activity but possibly slightly decreased ability to oxidize glycerol.

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