Abstract:
:Lecithin-cholesterol acyltransferase (LCAT) is an important enzyme involved in the esterification of cholesterol. Here, we report a novel point mutation in the LCAT gene of a 63-year-old female with characteristics of classic familial LCAT deficiency. The patient's clinical manifestations included corneal opacity, mild anemia, mild proteinuria and normal renal function. She had no sign of coronary heart disease. Her LCAT activity was extremely low. DNA sequencing revealed a point mutation in exon 5 of the LCAT gene: a G to C substitution converting Gly(179) to an Arg, located in one of the catalytic triads of the enzyme. In vitro expression of recombinant LCAT proteins in HEK293 cells showed that the mutant G179R protein was present in the cell lysate, but not the culture medium. LCAT activity was barely detectable in the cell lysate or medium of the cells expressing the G179R mutant. This novel missense mutation seems to cause a complete loss of catalytic activity of LCAT, which is also defective in secretion.
journal_name
J Atheroscler Thrombjournal_title
Journal of atherosclerosis and thrombosisauthors
Wang XL,Osuga J,Tazoe F,Okada K,Nagashima S,Takahashi M,Ohshiro T,Bayasgalan T,Yagyu H,Okada K,Ishibashi Sdoi
10.5551/jat.8003subject
Has Abstractpub_date
2011-01-01 00:00:00pages
713-9issue
8eissn
1340-3478issn
1880-3873pii
JST.JSTAGE/jat/8003journal_volume
18pub_type
杂志文章abstract::Our purpose was to determine whether lipid peroxides are elevated in the plasma of patients with non-insulin dependent diabetes with multiple lacunar infarcts as detected by magnetic resonance imaging (MRI), and to confirm whether peroxide levels correlate with glycemic controls and blood lipid levels. The level of li...
journal_title:Journal of atherosclerosis and thrombosis
pub_type: 杂志文章
doi:10.5551/jat1994.4.90
更新日期:1997-01-01 00:00:00
abstract:AIM:Resveratrol has been shown to mimic the beneficial effects of dietary restriction (DR). We previously reported that DR delays stroke onset and extends the lifespan in Stroke-Prone Spontaneously Hypertensive rats (SHRSP). Therefore, we examined whether resveratrol mimics DR and delays stroke onset in SHRSP. METHODS...
journal_title:Journal of atherosclerosis and thrombosis
pub_type: 杂志文章
doi:10.5551/jat.27789
更新日期:2015-01-01 00:00:00
abstract::To determine the recent serum lipid levels in the general Japanese population and trends in their changes over the past 30 years, a nationwide survey of serum lipid levels was conducted in 39 institutes from various districts around Japan. The total number of subjects were 34,815, consisting of 20,279 men and 14,536 w...
journal_title:Journal of atherosclerosis and thrombosis
pub_type: 杂志文章
doi:10.5551/jat1994.2.122
更新日期:1996-01-01 00:00:00
abstract:AIM:The importance of sarcopenia in cardiovascular diseases has been recently demonstrated. This study aims to examine whether skeletal muscle mass (SMM), an important component of sarcopenia, is associated with an increased risk of poor outcome in patients after ST-segment elevation myocardial infarction (STEMI). MET...
journal_title:Journal of atherosclerosis and thrombosis
pub_type: 杂志文章
doi:10.5551/jat.52282
更新日期:2020-12-01 00:00:00
abstract:AIM:Homocysteine is associated with increased arterial resistance and eventually causes luminal reduction. The purpose of the present study was to evaluate an association between the plasma concentration of total homocysteine (tHcy) and stenosis or occlusion of the internal carotid artery (ICA) in patients with ischemi...
journal_title:Journal of atherosclerosis and thrombosis
pub_type: 杂志文章
doi:10.5551/jat.4796
更新日期:2010-09-30 00:00:00
abstract:AIM:Changes in indexes of obesity, such as waist circumference (WC) and body mass index (BMI), may influence some glucose metabolism-related parameters in both obese and non-obese subjects. We have investigated the impact of changes in WC and in BMI on data related to glucose metabolism over a one-year period. METHODS...
journal_title:Journal of atherosclerosis and thrombosis
pub_type: 杂志文章
doi:10.5551/jat.5959
更新日期:2010-12-26 00:00:00
abstract:AIM:To investigatethe association of plasma epoxyeicosatrienoic acids (EETs) with early neurologic deterioration (END), and whether EETs are mediated by EPHX2 variants in patients with minor ischemic stroke (MIS). METHOD:This was a prospective, multi-center observational study in patients with acute MIS in the Chinese...
journal_title:Journal of atherosclerosis and thrombosis
pub_type: 杂志文章,多中心研究
doi:10.5551/jat.41145
更新日期:2017-12-01 00:00:00
abstract:AIM:A simple, non-invasive medical device, using bioelectrical impedance analysis (BIA) for the evaluation of visceral fat level (VFL) was developed recently. The aim of this study was to investigate the utility of VFL by BIA in the screening of metabolic syndrome (MetS). METHODS:VFL was measured by the BIA device in ...
journal_title:Journal of atherosclerosis and thrombosis
pub_type: 杂志文章
doi:10.5551/jat.11528
更新日期:2012-01-01 00:00:00
abstract:AIM:To determine the effects of exercise training on total and high molecular weight (HMW) adiponectin and adiponectin oligomeric distribution. METHODS:A randomized parallel-design study (n=53; 40 women and 13 men; age range, 32?65 years) was conducted at a fitness club between April 2006 and July 2007. Participants w...
journal_title:Journal of atherosclerosis and thrombosis
pub_type: 杂志文章,随机对照试验
doi:10.5551/jat.2089
更新日期:2009-01-01 00:00:00
abstract:AIM:Inflammation plays a critical role in the development of atherosclerotic plaque, and lipopolysaccharide (LPS) is a potentially important source of inflammation. The aim of this study was to develop a rabbit model of spontaneous thrombosis mimicking the pathophysiological and morphological characteristics of atheros...
journal_title:Journal of atherosclerosis and thrombosis
pub_type: 杂志文章
doi:10.5551/jat.22772
更新日期:2014-01-01 00:00:00
abstract:AIMS:Small arteries can be visualized in the ocular fundus, and findings of retinopathy based on Scheie classification are often applied to evaluate the impact of hypertension and atherosclerosis. However, the relationship between damage in the large and small arteries has not been investigated sufficiently, especially...
journal_title:Journal of atherosclerosis and thrombosis
pub_type: 杂志文章
doi:10.5551/jat.59857
更新日期:2020-11-25 00:00:00
abstract::Sitosterolemia is a rare, autosomal recessive inherited sterol storage disease associated with high tissue and serum plant sterol concentrations, caused by mutations in the adenosine triphosphate-bind-ing cassette (ABC) transporter ABCG5 or ABCG8 genes. Markedly increased serum concentration of plant sterols. such as ...
journal_title:Journal of atherosclerosis and thrombosis
pub_type: 杂志文章,评审
doi:10.5551/jat.4614
更新日期:2010-09-30 00:00:00
abstract:AIM:Recent evidence suggests that small dense low-density lipoprotein (sd-LDL) particles are more atherogenic than large-LDL in spite of their lower cholesterol content. This study aimed to determine whether sd-LDL-cholesterol (sd-LDL-C) is superior to LDL-C as a biomarker of coronary heart disease (CHD). METHODS:LDL ...
journal_title:Journal of atherosclerosis and thrombosis
pub_type: 杂志文章
doi:10.5551/jat.e572
更新日期:2008-10-01 00:00:00
abstract:AIM AND METHODS:The high-density lipoprotein 2 cholesterol (HDL2-C) to HDL3-C ratio is associated with insulin resistance, high-molecular-weight adiponectin (HMW-Ad), and metabolic syndrome (MetS) components and is useful for evaluating MetS in Japanese individuals. We investigated potential associations between change...
journal_title:Journal of atherosclerosis and thrombosis
pub_type: 杂志文章
doi:10.5551/jat.32896
更新日期:2016-06-01 00:00:00
abstract:AIM:Endothelial dysfunction is considered an early event in the development of atherosclerosis. The present study was undertaken to determine whether the accumulation of cardiovascular risk factors and insulin resistance are associated with endothelial function in diabetic patients. METHODS:101 patients with type 2 di...
journal_title:Journal of atherosclerosis and thrombosis
pub_type: 杂志文章
doi:10.5551/jat.e525
更新日期:2007-12-01 00:00:00
abstract:AIM:Sarcopenic obesity (SO) is closely associated with cardiovascular disease (CVD) in elderly women. Increases in body fat and decreases in muscle mass are closely associated with increased carotid intima-media thickness (CIMT). The aim of this study was to examine the influence of a 24-week aerobic and resistance tra...
journal_title:Journal of atherosclerosis and thrombosis
pub_type: 杂志文章,随机对照试验
doi:10.5551/jat.39065
更新日期:2017-11-01 00:00:00
abstract:AIM:This study tested the hypothesis that tacrolimus therapy limited left ventricular (LV) infarct and remodeling by suppressing the inflammatory response, oxidative stress and regulating the mitogen-activated protein kinase (MAPK) and Akt signaling pathways in an acute myocardial infarction (AMI) mini-pig model by lig...
journal_title:Journal of atherosclerosis and thrombosis
pub_type: 杂志文章
doi:10.5551/jat.14316
更新日期:2013-01-01 00:00:00
abstract::Dysregulation of adipose tissue-derived bioactive molecules, termed adipokines, is recognized as common ground for insulin resistance and metabolic syndrome associated with obesity. However, adipokine dysregulation is paradoxically associated with lipodystrophy and lipoatrophy with aging. In familial partial lipodystr...
journal_title:Journal of atherosclerosis and thrombosis
pub_type: 杂志文章,评审
doi:10.5551/jat.7039
更新日期:2011-01-01 00:00:00
abstract:AIM:Lipoprotein lipase protein exists in preheparin serum (preheparin LpL mass), even though lipoprotein lipase activity is rarely detected. Recent clinical studies have clarified that low preheparin LpL mass concentration is an important coronary risk factor. The aim of this study was to clarify the effect of telmisar...
journal_title:Journal of atherosclerosis and thrombosis
pub_type: 杂志文章
doi:10.5551/jat.e547
更新日期:2008-06-01 00:00:00
abstract:AIM:Ischemic stroke (IS) is a multifactorial disease caused by environmental risk factors and genetic susceptibility. However, few studies have assessed whether gene-gene interactions among cytochrome P450 (CYP) pathway genes influence the risk of IS. The aim of the present study was to investigate the association of 1...
journal_title:Journal of atherosclerosis and thrombosis
pub_type: 杂志文章
doi:10.5551/jat.29025
更新日期:2015-01-01 00:00:00
abstract:AIM:High density lipoprotein (HDL) and its apolipoproteins can promote cholesterol efflux from macrophage foam cells via the ATP-binding cassette transporter A1 (ABCA1), ABCG1, and scavenger receptor class B type I (SR-BI). Liver X receptors (LXRs) operate as cholesterol sensors which may protect from cholesterol overl...
journal_title:Journal of atherosclerosis and thrombosis
pub_type: 杂志文章
doi:10.5551/jat.3152
更新日期:2010-05-01 00:00:00
abstract::Inflammation and oxidative stress play key roles in atherosclerotic plaque instability, and plaque rupture/erosion and subsequent thrombus formation constitute the principal mechanisms of total vessel occlusion and acute ST-elevation myocardial infarction (STEMI). Plaque disruption triggers the formation of initial pl...
journal_title:Journal of atherosclerosis and thrombosis
pub_type: 杂志文章,评审
doi:10.5551/jat.17608
更新日期:2013-01-01 00:00:00
abstract:AIM:Epicardial adipose tissue (EAT) may be associated with arrhythmogenesis. P-wave indices such as P-wave dispersion and P-wave variation indicated a slowed conduction velocity within the atria. This study investigated the effect of dapagliflozin on EAT volume and P-wave indices. METHODS:In the present ad hoc analysi...
journal_title:Journal of atherosclerosis and thrombosis
pub_type: 杂志文章
doi:10.5551/jat.48009
更新日期:2020-12-01 00:00:00
abstract::Cell degeneration and collagenosis are the main features in atherosclerotic plaque. We examined the effects of human low density lipoprotein (LDL) on cultured rabbit aortic smooth muscle cells (SMCs). Copper oxidized LDL (LDL+Cu) injured the SMCs more than did native LDL. Cytotoxicity of oxidized LDL was prevented by ...
journal_title:Journal of atherosclerosis and thrombosis
pub_type: 杂志文章
doi:10.5551/jat1994.1.53
更新日期:1994-01-01 00:00:00
abstract:AIM:The arterial pressure-volume index (API) and arterial velocity-pulse index (AVI) are novel measurement indices of arterial stiffness. This study was performed to examine the screening validity of the API and AVI for preclinical atherosclerosis in Japanese community-dwelling adults. METHODS:We conducted a cross-sec...
journal_title:Journal of atherosclerosis and thrombosis
pub_type: 杂志文章
doi:10.5551/jat.43125
更新日期:2018-09-01 00:00:00
abstract:AIM:Angiotensin (Ang) II-induced abdominal aortic aneurysm (AAA) in apoE-deficient mice has been used as a model of human AAA, but it has been unclear why the progression of AAA continues after stopping the Ang II infusion. The involvement of vascular Ang II-forming enzymes in the progression of AAA was studied. METHO...
journal_title:Journal of atherosclerosis and thrombosis
pub_type: 杂志文章
doi:10.5551/jat.e611
更新日期:2009-06-01 00:00:00
abstract:AIM:The purpose of this study was to compare two homogeneous assays of low-density lipoprotein-cholesterol (LDL-C) with a modified beta quantification reference measurement for LDL-C (BQ-LDL), fractions of chylomicron (CM), very low-density lipoprotein (VLDL) and intermediate-density lipoprotein (IDL) by quantitative u...
journal_title:Journal of atherosclerosis and thrombosis
pub_type: 临床试验,杂志文章
doi:10.5551/jat.47191
更新日期:2019-11-01 00:00:00
abstract:AIM:To investigate the association between arterial stiffness (present with brachial-ankle pulse wave velocity (baPWV)) and metabolic syndrome (MetS) in a population-based study of middle-aged Chinese. METHODS:MetS was defined using the AHA/NHLBI criteria. A total of 1,018 subjects aged 40 years and over were recruite...
journal_title:Journal of atherosclerosis and thrombosis
pub_type: 杂志文章
doi:10.5551/jat.e603
更新日期:2009-04-01 00:00:00
abstract:AIM:Ezetimibe, an inhibitor of cholesterol intestinal absorption, is a lipid lowering agent. However, anti-atherogenic effects of ezetimibe have not been fully elucidated. Therefore, the objective in this study was to clarify the vascular protective effects of ezetimibe in patients with hypercholesterolemia. METHODS:E...
journal_title:Journal of atherosclerosis and thrombosis
pub_type: 杂志文章
doi:10.5551/jat.9548
更新日期:2011-01-01 00:00:00
abstract::Vascular calcification is a common feature of advanced atherosclerosis resulting in reduced elasticity of elastic arteries. However, the relationship between elastic fibers and vascular calcification at the molecular and cellular levels remains unknown. We investigated the expression of major elastic fiber components ...
journal_title:Journal of atherosclerosis and thrombosis
pub_type: 杂志文章
doi:10.5551/jat.9.292
更新日期:2002-01-01 00:00:00