Abstract:
:Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (HMGCS2) deficiency is a metabolic disorder caused by mutations in the HMGCS2 gene. The present study describes the identification of four cases of HMGCS2 deficiency in Japan. Hepatomegaly and severe metabolic acidosis were observed in all cases. Fatty liver was identified in three cases, which suggested the unavailability of fatty acids. All patients presented with a high C2/C0 ratio, suggesting that the fatty acid oxidation pathway was normal during metabolic crisis. Genetic analyses revealed five rare, novel variants (p.G219E, p.M235T, p.V253A, p.S392L and p.R500C) in HMGCS2. To confirm their pathogenicity, a eukaryotic expression system and a bacterial expression system was adopted that was successfully used to obtain affinity-purified HMGCS2 protein with measurable activity. Purified M235T, S392L and R500C proteins did not retain any residual activity, whilst the V253A variant showed some residual enzymatic activity. Judging from the transient expression experiment in 293T cells, the G219E variant appeared to be unstable. In conclusion, the present study identified five novel variants of HMGCS2 that were indicated to be pathogenic in four patients affected by HMGCS2 deficiency.
journal_name
Exp Ther Medjournal_title
Experimental and therapeutic medicineauthors
Ago Y,Otsuka H,Sasai H,Abdelkreem E,Nakama M,Aoyama Y,Matsumoto H,Fujiki R,Ohara O,Akiyama K,Fukui K,Watanabe Y,Nakajima Y,Ohnishi H,Ito T,Fukao Tdoi
10.3892/etm.2020.9166subject
Has Abstractpub_date
2020-11-01 00:00:00pages
39issue
5eissn
1792-0981issn
1792-1015pii
ETM-0-0-09166journal_volume
20pub_type
杂志文章abstract::The present study retrospectively analyzed 19 patients diagnosed with paraquat (PQ) poisoning with the aim to investigate the effect of activated charcoal hemoperfusion on renal function and PQ elimination. The results indicated that 7 patients died and 12 survived. Non-oliguric renal failure occurred in all of the 7 ...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2018.5712
更新日期:2018-03-01 00:00:00
abstract::It is understood that mechanical loading may affect tendon properties. However, how different mechanical loading conditions may affect tendons remains unknown. The present study aimed to investigate the effect of treadmill running at various intensities on rat Achilles tendon. A total of 18 male Wistar rats were rando...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2018.6084
更新日期:2018-06-01 00:00:00
abstract::Pediatric patients with systemic-onset juvenile idiopathic arthritis (SOJIA) may be treated with tacrolimus. However, the therapeutic range for tacrolimus is narrow with considerable inter- and intra-individual variability, making it difficult to formulate an ideal dosage regimen for personalized treatment. The purpos...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2019.8129
更新日期:2019-12-01 00:00:00
abstract::The curative effect of minimally invasive surgery on palmar and foot hyperhidrosis and its influence on serum-related cytokines and immunoglobulins were investigated. Seventy-six patients with palmar and foot hyperhidrosis admitted to Yunnan University Hospital from August 2014 to July 2016 were selected and randomly ...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2018.5873
更新日期:2018-04-01 00:00:00
abstract::Cardiovascular ischemic disease refers to a large class of conditions that are harmful to human health. A number of previous studies have demonstrated that microRNAs (miRs) have notable roles in regulating cardiac injury. miR-144 is influential in the differentiation, growth, and metastatic processes of cells; however...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2019.7161
更新日期:2019-03-01 00:00:00
abstract::The pathogenesis underlying alcoholic liver disease (ALD), which is often a result of alcohol abuse, currently remains unclear. Previous studies have reported that enteric dysbiosis serves an important role in the pathogenesis of ALD. The present study aimed to investigate the effects of glutamine and probiotics on a ...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2019.8123
更新日期:2019-12-01 00:00:00
abstract::Endometriosis (EM) is a common benign gynecological disorder. The present study aimed to investigate the potential role of propofol, a commonly used intravenous anesthetic agent, in the pathogenesis of EM. The EM cell line CRL-7566 was used in the present study. CRL-7566 cells were first treated with various concentra...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2018.6648
更新日期:2018-10-01 00:00:00
abstract::Guillain-Barré syndrome is a type of acute inflammatory neuropathy that causes ataxia and is associated with the IgG anti-GM1 antibody. However, the pathogenic role of the IgG anti-GM1 antibody and calcium channels in neuromuscular junctions (NMJs) remains unclear. Thus, the aim of the present study was to investigate...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2015.2575
更新日期:2015-08-01 00:00:00
abstract::Bone marrow stromal cells (MSCs) are a useful source of stem cells for the treatment of various brain injury diseases due to their abundant supply and fewer ethical problems compared with transplant treatment. However, the clinical application of MSCs is limited due to allograft rejection and immunosuppression in the ...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2020.9008
更新日期:2020-09-01 00:00:00
abstract::Sustained-release (SR) formulations of metoprolol succinate (MS) may minimize fluctuations in plasma concentration and decrease the resulting adverse events. The aim of the present study was to optimize the loading capacity of microcapsules and the SR of MS. A uniform design method was applied to optimize the formulat...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2017.4247
更新日期:2017-05-01 00:00:00
abstract::The present study aimed to investigate whether c-mesenchymal epithelial transition factor (C-MET) overexpression combined with RAS (including KRAS, NRAS and HRAS) or BRAF mutations were associated with late distant metastases and the prognosis of patients with colorectal cancer (CRC). A total of 374 patients with stag...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2018.5966
更新日期:2018-05-01 00:00:00
abstract::The aim of this study was to determine the metabolic biomarkers for abnormal Savda syndrome in patients with chronic obstructive pulmonary disease (COPD). Based on Traditional Uyghur Medicine (TUM) theory, a total of 103 patients with COPD were classified into abnormal Savda and non-abnormal Savda syndrome groups and ...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2014.2085
更新日期:2015-02-01 00:00:00
abstract::Phosphocitrate (PC) and its analogue, PC-β ethyl ester, inhibit articular cartilage degeneration in Hartley guinea pigs. However, the underlying molecular mechanisms remain unclear. The present study aimed to investigate the hypothesis that PC exerted its disease-modifying effect on osteoarthritis (OA), in part, by in...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2018.5846
更新日期:2018-04-01 00:00:00
abstract::The aim of the present study was to determine the prognostic value of peroxisome proliferator-activated receptor-γ (PPAR-γ) and phosphatase and tensin homologue deleted on chromosome ten (PTEN) for bladder cancer. Data were collected from The Cancer Genome Atlas (TCGA), a public database, and were analyzed to assess P...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2019.7879
更新日期:2019-10-01 00:00:00
abstract::Limited studies have focused on mental symptoms (anxiety and depression) and their impact on quality of life (QoL) in patients with pulmonary hypertension (PH). The objective of the present study was to assess the prevalence of anxiety and depression and their association with QoL in patients with pulmonary arterial h...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2020.8566
更新日期:2020-04-01 00:00:00
abstract::This study aimed to explore and evaluate the tolerability and antiviral activity of pegylated recombinant human consensus interferon-α (PEG-CIFN) in adults with hepatitis C virus (HCV) infection. A total of 48 adult subjects chronically infected with HCV were divided into five groups, which were treated separately wit...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2016.3914
更新日期:2017-01-01 00:00:00
abstract::In order to evaluate the efficacy and tolerability of oxycodone in moderate-severe cancer-related pain, we conducted a systematic review of randomized controlled trials (RCTs). Publications addressing the efficacy and tolerability of oxycodone in moderate-severe cancer-related pain were selected from the Cochrane libr...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2012.571
更新日期:2012-08-01 00:00:00
abstract::The aim of this study was to observe the effects of different types of fluid resuscitation on hepatic mitochondria and apoptosis in hemorrhagic shock, and the corresponding mechanisms. Forty rats were divided into five groups: Sham surgery (Sham group), shock (Shock group), Ringer's lactate resuscitation (RL group), h...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2013.1447
更新日期:2014-02-01 00:00:00
abstract::A mutation in the IIb sodium phosphate transporter SLC34A2 gene has recently been described in pulmonary alveolar microlithiasis (PAM) patients. Experiments in this study were aimed at confirming the role of the gene product in PAM by comparing phosphorylated products in extracellular fluid of alveolar epithelial cell...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2017.5380
更新日期:2018-01-01 00:00:00
abstract::microRNAs (miRNAs) are small, non-coding RNAs of endogenous origin. They have been increasingly shown to have aberrant expression in a number of tumor types. miR-192, -194 and -215 have not been comprehensively investigated using a large number of cases in colorectal cancer (CRC). We extracted total RNA from 107 CRC t...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2011.436
更新日期:2012-03-01 00:00:00
abstract::The effects of different cytochrome P450 2C19 (CYP2C19) genotypes on the prognosis of clopidogrel resistance in patients complicated with atrial fibrillation taking clopidogrel after percutaneous coronary intervention (PCI) were investigated. Eighty patients who were complicated with atrial fibrillation and treated wi...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2018.6650
更新日期:2018-10-01 00:00:00
abstract::Effects of minimally invasive plate-screw internal fixation and sacroiliac joint screw fixation in the treatment of posterior pelvic ring fracture were compared. Continuous selection of 20 cases of unstable pelvic posterior ring fractures, according to indications of operation, were divided into a group of 13 cases of...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2018.6670
更新日期:2018-11-01 00:00:00
abstract::MicroRNA-155 (miR-155) is overexpressed in numerous human cancer types and has an oncogenic role. Previous study has revealed that miR-155 serves an important role in the progression of clear-cell renal cell carcinoma (ccRCC); however, the underlying mechanism was not completely clarified. The present study aimed to i...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2017.4263
更新日期:2017-05-01 00:00:00
abstract::Peptide P7 specifically binds with basic fibroblast growth factor (bFGF) to inhibit the proliferation and invasion of numerous types of cancer cell. However, this effect has remained to be demonstrated in ovarian cancer-derived cell lines. In the present study, the protein P7 was used treat bFGF-stimulated SKOV3 epith...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2019.7309
更新日期:2019-04-01 00:00:00
abstract::Hyponatremia is a risk factor associated with poor prognosis in patients with heart failure (HF) with reduced ejection fraction. However, whether hyponatremia has a similar role in patients with HF with preserved ejection fraction (HFpEF) has remained controversial. Therefore, the present study aimed to investigate th...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2020.9231
更新日期:2020-11-01 00:00:00
abstract::Non-small cell lung cancer (NSCLC) is one of the most common cancer types worldwide. Previous studies have indicated that TOR signaling pathway regulator (TIPRL) is involved in the progression of NSCLC. However, the underlying mechanisms of the role of TIPRL in regulating NSCLC metastasis have remained largely elusive...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2019.8358
更新日期:2020-03-01 00:00:00
abstract::Sepsis is a type of systemic inflammatory response syndrome with high morbidity and mortality. Skeletal muscle dysfunction is one of the major complications of sepsis that may also influence the outcome of sepsis. The aim of the present study was to explore and identify potential mechanisms and therapeutic targets of ...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2018.6026
更新日期:2018-06-01 00:00:00
abstract::The aim of the present study was to investigate the susceptibility of two coronary artery disease (CAD)-associated single nucleotide polymorphisms on 9p21 (rs1333049 and rs10757278) to myocardial infarction (MI) in a primary (stratification of high risk group for MI) and secondary prevention setting. The prospective o...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2019.7884
更新日期:2019-10-01 00:00:00
abstract::The application of biomarkers in melanoma prognosis has been well recognized. However the ability of a single biomarker to predict melanoma patient outcome is usually limited. We previously examined the expression of ten biomarkers (Bim, BRG1, BRMS1, CTHRC1, ING4, NQO1, NF-κB-p50, PUMA, SNF5 and SOX4) in melanomas. To...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2010.169
更新日期:2011-01-01 00:00:00
abstract::The aim of the present study was to investigate the functional status of dendritic cells (DCs) in nasal polyps (NP) and their interactions with T lymphocytes. The interactions between DC and T lymphocytes in the pathogenesis of NP was also studied. The expression of cluster of differentiation (CD)1a and CD83 in NP was...
journal_title:Experimental and therapeutic medicine
pub_type: 杂志文章
doi:10.3892/etm.2018.6128
更新日期:2018-06-01 00:00:00