Detailed analysis of lipolytic enzymes in a Japanese woman of familial lipoprotein lipase deficiency - Effects of pemafibrate treatment.

Clinica Chimica Acta; International Journal of Clinical Chemistry
Takuya MinamizukaKoutaro Yokote

Abstract

We present here a 72-y-old Japanese woman with lipoprotein lipase (LPL) deficiency and analyzed her lipolytic enzymes in detail before and after pemafibrate treatment. She had a serum triglycerides (TG) of 22.6 mmol/l at a medical checkup at the age of 52 y. She was referred to our hospital at the age of 61 y. Her serum lipoprotein lipase (LPL) concentration was extremely low, suggesting the clinical diagnosis of LPL deficiency. She experienced an event of acute pancreatitis at the age of 65 y. Next-generation sequencing analysis revealed a homozygous nonsense mutation in the LPL gene, c.1277G > A (p.Trp409Ter). Her serum TG, LPL and hepatic lipase (HL) concentrations were 15.0 mmol/l, 23 ng/ml and 66 ng/ml, respectively. Fifteen minutes after intravenous heparin injection (30 U/kg), her serum TG, LPL and HL concentrations turned to 14.1 mmol/l, 20 ng/ml and 660 ng/ml, respectively. Eight weeks of pemafibrate treatment (0.2 mg/day) caused a modest reductions in serum TG (15.02 → 13.58 mmol/l) and considerable increases in preheparin HL (66 → 76 ng/ml) and PHP-HL (660 → 1118 ng/ml) concentrations and PHP-HL activities (253 → 369U/l) despite almost no effect on LPL concentrations and activities. These findings suggest that HL may...Continue Reading

References

Apr 7, 1999·Nature Genetics·M JayeD J Rader
Jan 16, 2007·Clinica Chimica Acta; International Journal of Clinical Chemistry·Junji KobayashiHiroshi Mabuchi
Dec 17, 2008·Biochemical and Biophysical Research Communications·Osamu MiyazakiJunji Kobayashi
May 23, 2015·Annals of Clinical Biochemistry·Junji Kobayashi, Hiroshi Mabuchi
Apr 13, 2017·The New England Journal of Medicine·Anne P BeigneuxStephen G Young
Jun 22, 2017·Journal of Lipid Research·Kazuya MiyashitaJunji Kobayashi
Aug 7, 2017·Journal of Atherosclerosis and Thrombosis·Masami SairyoShizuya Yamashita
Dec 17, 2017·Journal of Clinical Lipidology·Kazuya MiyashitaKatsuyuki Nakajima
Sep 23, 2018·Journal of Clinical Lipidology·Hayato TadaMasakazu Yamagishi
Oct 6, 2018·Clinica Chimica Acta; International Journal of Clinical Chemistry·Kazuya MiyashitaKatsuyuki Nakajima
Apr 2, 2019·Journal of Atherosclerosis and Thrombosis·Shizuya YamashitaYuji Matsuzawa
Nov 27, 2019·International Journal of Molecular Sciences·Yusuke SasakiTatsuhiko Kodama
Nov 27, 2019·Current Pharmaceutical Design·Haizhou WangQiu Zhao

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.