Discovery and mechanistic analysis of a novel molecule associated with high-density lipoprotein metabolism using whole exome sequencing View Homepage


Ontology type: schema:MonetaryGrant     


Grant Info

YEARS

2015-2019

FUNDING AMOUNT

4680000.0 JPY

ABSTRACT

The causal genes of 2 cases with extreme hypo-HDL-cholesterolemia (2mg/dL, 6mg/dL) and single case with extreme hyper-HDL-cholesterolemia (170mg/dL) were analyzed by whole exome sequencing. The causes of both of hypo-HDL-cholesterolemia were compound heterozygosity of ABCA1 gene (c.6230C>A/c.6137G>A and c.2842G>A/c.1130C>T). The potential causal gene of the extreme hyper-HDL-cholesterolemia supposed to be "molecule X". The gene was introduced into HEK293 cells. The cholesterol efflux capacity of "molecule X" was not different from that of controls, which suggested the hyper-HDL-cholesterolemia of this index case was not due to increased cholesterol efflux capacity. More... »

URL

https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-15K09118

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