Yora Nindita
Diponegoro University, PHARMACOLOGY, Faculty Member
Background: Although beneficial associations have been reported between moderate alcohol intake and the serum lipid profile, it is unclear whether polymorphisms in alcohol-metabolizing enzymes can modify these associations. Here, we... more
Background: Although beneficial associations have been reported between moderate alcohol intake and the serum lipid profile, it is unclear whether polymorphisms in alcohol-metabolizing enzymes can modify these associations. Here, we assessed the effects of ADH1B His48Arg (rs1229984), ALDH2 Glu504Lys (rs671), and their combination on these associations. Furthermore, we examined if the findings for ALDH2 could be replicated. Methods: We categorized 889 male participants in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study into two groups based on presence or absence of minor allele(s) or four groups based on genotype combinations. We performed regression analyses of serum lipid concentrations on alcohol intake, with multivariable adjustment. The replication study was conducted among 2,562 men in the Shizuoka part of the J-MICC Study. Results: The ALDH2 Glu/Lys or Lys/Lys groups showed significant decreases in serum low-density lipoprotein (LDL) cholesterol with increas...
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Background: Diarrhea is a condition of increased fecal water content of more than 200 grams or 200 ml/24 hours with a liquid or semi-liquid consistency. Complications of diarrhea, dehydration and malnutrition are still world health... more
Background: Diarrhea is a condition of increased fecal water content of more than 200 grams or 200 ml/24 hours with a liquid or semi-liquid consistency. Complications of diarrhea, dehydration and malnutrition are still world health problems. Lime peel extract contains tannins which have astringent properties. Tannins are indicated as an alternative anti-diarrheal agent by tightening and forming a protective layer on the intestinal mucosa thereby reducing osmolarity.Aim: To examine the consistency, fecal water content, and frequency of defecation of bisacodyl-induced diarrhea in mice that are given lime peel extract.Methods: This research was an experimental with post test only group design. Thirty-six male mice were included and then divided into 5 groups with bisacodyl induction and 1 normal control group (KM) without bisacodyl induction. The negative control group (KN) was given 0.5 ml Tween 80 1%, the positive control group (KP) was given attalpugite 0.4 mg/40gW, treatment group ...
The maximum physical activity led to generate of free radical levels in the human body called oxidative stress. Red cabbage is well known as the vegetable containing highest anthocyanin among various other head cabbage plants. Anthocyanin... more
The maximum physical activity led to generate of free radical levels in the human body called oxidative stress. Red cabbage is well known as the vegetable containing highest anthocyanin among various other head cabbage plants. Anthocyanin is an antioxidant which is proven can prevent oxidative stress through reduction of MDA levels. The study aimed to investigate the effect of red cabbage extract (RCE) on MDA levels in rat after doing maximum physical activity. It was a true experimental study with post-test only control group design. Twenty-four male albino Wistar rats were used in this study. The rats were randomly divided into four groups i.e. the rats receiving maximum physical activity without and with RCE administration at dose of 86 mg/kg BW for eight days and the rats not receiving maximum physical activity without and with RCE administration. A swim test was used for maximum physical activity intervention. Serum MDA levels were measured using TBARS method. Data were analyse...
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Although beneficial associations have been reported between moderate alcohol intake and the serum lipid profile, it is unclear whether polymorphisms in alcohol-metabolizing enzymes can modify these associations. Here, we assessed the... more
Although beneficial associations have been reported between moderate alcohol intake and the serum lipid profile, it is unclear whether polymorphisms in alcohol-metabolizing enzymes can modify these associations. Here, we assessed the effects of ADH1B His48Arg (rs1229984), ALDH2 Glu504Lys (rs671), and their combination on these associations. Furthermore, we examined if the findings for ALDH2 could be replicated. We categorized 889 male participants in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study into two groups based on presence or absence of minor allele(s) or four groups based on genotype combinations. We performed regression analyses of serum lipid concentrations on alcohol intake, with multivariable adjustment. The replication study was conducted among 2,562 men in the Shizuoka part of the J-MICC Study. The ALDH2 Glu/Lys or Lys/Lys groups showed significant decreases in serum low-density lipoprotein (LDL) cholesterol with increasing alcohol consumption; the c...
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An increased risk of total death owing to human T-lymphotropic virus type-I (HTLV-I) infection has been reported. However, its etiology and protective factors are unclear. Various studies reported fluctuations in immune-inflammatory... more
An increased risk of total death owing to human T-lymphotropic virus type-I (HTLV-I) infection has been reported. However, its etiology and protective factors are unclear. Various studies reported fluctuations in immune-inflammatory status among HTLV-I carriers. We conducted a matched cohort study among the general population in an HTLV-I-endemic region of Japan to investigate the interaction between inflammatory gene polymorphisms and HTLV-I infection for total death, incidence of cancer, and atherosclerosis-related diseases. We selected 2180 sub-cohort subjects aged 35-69 years from the cohort population, after matching for age, sex, and region with HTLV-I seropositives. They were followed up for a maximum of 10 years. Inflammatory gene polymorphisms were selected from TNF-α, IL-10, and NF-κB1. A Cox proportional hazard model was used to estimate the hazard ratio (HR) and the interaction between gene polymorphisms and HTLV-I for risk of total death and incidence of cancer and athe...
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Research Interests: Principal Component Analysis, Biology, Japan, Medicine, Biological Sciences, and 15 moreHumans, Female, Male, Human Molecular Genetics, Risk factors, Aged, Middle Aged, Genotype, Adult, Asian Continental Ancestry Group, Risk Factors, Case Control Studies, alleles, Gene frequency, and Medical and Health Sciences
Denaturing high-performance liquid chromatography (DHPLC), which has recently been developed as an automated method to detect mutations, is at least ten times less expensive than the direct sequencing method; however, its sensitivity and... more
Denaturing high-performance liquid chromatography (DHPLC), which has recently been developed as an automated method to detect mutations, is at least ten times less expensive than the direct sequencing method; however, its sensitivity and specificity for cardiac myo sin-binding protein C (MYBPC3) gene mutations in hypertrophic cardiomyopathy have not been reported yet. A mutation analysis of exons 1 to 35 of MYBPC3 gene from 20 Japanese patients with hypertrophic cardiomyopathy was performed using DHPLC and direct sequencing. Compared to direct sequencing, the sensitivity and specificity of DHPLC were 87.5 % and 97.42 %, respectively. Its positive and negative predictive values were 41.18 % and 99.74 %. The positive and negative likelihood ratios were 33.95 and 0.13, and the prevalence was 2.02 %. DHPLC showed high sensitivity and specificity for detecting MYBPC3 gene mutations in hypertrophic cardiomyopathy. The use of this complementary s equencing method should reduce the cost of ...
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Objective: This study aimed to evaluate the effect of catfish (Pangasius hypophthalmus) oil on hs-CRP and transthyretin levels of undernourished Wistar rats. Methods: Thirty male Wistar rats were divided into five equal groups. Healthy... more
Objective: This study aimed to evaluate the effect of catfish (Pangasius hypophthalmus) oil on hs-CRP and transthyretin levels of undernourished Wistar rats. Methods: Thirty male Wistar rats were divided into five equal groups. Healthy control (KN) is normal rats that consumed a standard diet only and negative control (K-) is undernourished rats that consumed a protein-free diet only. Undernourished rats that consumed a protein free diet and catfish (Pangasius hypophthalmus) oil at doses 0.020 ml/200 g-body-weight/d, 0.040 ml/200 g-body-weight/d and 0.060 ml/200 g-body-weight/d were classified to P1, P2 and P3 groups, respectively. Hs-CRP is a parameter to evaluate inflammatory condition. Transthyretin and body weight are parameters for measuring nutritional status. Results: Treatment of catfish (Pangasius hypophthalmus) oil on P3 group significantly increases body weight of rats (p 0.05) compared to K-. Conclusion: The present study showed that catfish (Pangasius hypophthalmus) oil...
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BACKGROUND Environmental and genetic factors are suggested to exhibit factor-based association with HDL-cholesterol (HDL-C) levels. However, the population-based effects of environmental and genetic factors have not been compared clearly.... more
BACKGROUND Environmental and genetic factors are suggested to exhibit factor-based association with HDL-cholesterol (HDL-C) levels. However, the population-based effects of environmental and genetic factors have not been compared clearly. We conducted a cross-sectional study using data from the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study to evaluate the population-based impact of smoking, drinking, and genetic factors on low HDL-C. METHODS Data from 11,498 men and women aged 35-69 years were collected for a genome-wide association study (GWAS). Sixty-five HDL-C-related SNPs with genome-wide significance (P < 5 × 10-8) were selected from the GWAS catalog, and seven representative SNPs were defined, and the population-based impact was estimated using population attributable fraction (PAF). RESULTS We found that smoking, drinking, daily activity, habitual exercise, egg intake, BMI, age, sex and the SNPs CETP rs3764261, APOA5 rs662799, LIPC rs1800588, LPL rs328, ABC...
Research Interests: Epidemiology and Medicine
Type 2 diabetes mellitus (T2DM) is an age-related disease associated with cerebral inflammation and Alzheimer's disease. Garcinia mangostana pericarp (GMP) possesses antihyperglycemic, antidiabetic and anti-inflammatory effects. The... more
Type 2 diabetes mellitus (T2DM) is an age-related disease associated with cerebral inflammation and Alzheimer's disease. Garcinia mangostana pericarp (GMP) possesses antihyperglycemic, antidiabetic and anti-inflammatory effects. The aim of the present study was to evaluate the effect of GMP extract on cerebral inflammation in Wistar rats with T2DM by examining the expression levels of glial nuclear factor-κB (NF-κB), interleukin (IL)-6, tumor necrosis factor-α (TNF-α) and superoxide dismutase (SOD). A total of 36 8-10-week-old male Wistar rats were randomly divided into six groups and provided a standard diet (normal control; C1), high-fat diet (HFD) with 200 g/kg GMP extract BW/day (GMP control; C2), HFD with streptozotocin-nicotinamide (diabetic control; C3), and HFD with 100 (M1), 200 (M2) or 400 g/kg body weight (BW)/day (M3) GMP extract for Wistar rats with diabetes. GMP extract was administered for 8 weeks after induction of T2DM was confirmed. Glial NF-κB activity was ass...
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Backgrounds. Diabetes mellitus is a degenerative disease that has various complications. One of neglected diabetes mellitus complication is skeletal muscle atrophy. Turmeric and java turmeric extracts were need to be clarified due to... more
Backgrounds. Diabetes mellitus is a degenerative disease that has various complications. One of neglected diabetes mellitus complication is skeletal muscle atrophy. Turmeric and java turmeric extracts were need to be clarified due to those effect as antihyperglycemic agent which might affected muscle atrophy as one of diabetes mellitus complication. Aim. To compared the efficacy of turmeric and java turmeric extract on reducing the progression of skeletal muscle atrophy in streptozotocin-induced diabetes mellitus. Methods. We conducted experimental animal studies with a post test only control group design using 25-30 grams male Swiss mice aged 12 weeks. Diabetes mellitus was induced by streptozotocin (STZ) administration. All 28 samples were randomly divided into 4 groups : control + PBS, control + STZ, STZ + turmeric, and STZ + java turmeric groups. Before treatment, blood glucose and body weight were examined on 3rd day. Blood glucose, body weight, hindlimb muscle weight, and musc...
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Background: According to WHO stroke is the second leading cause of death in the world. Ischemic stroke is the type of stroke with the highest population reaching (80%). Data at RSUP Dr. Kariadi in 2015 showed that the most common... more
Background: According to WHO stroke is the second leading cause of death in the world. Ischemic stroke is the type of stroke with the highest population reaching (80%). Data at RSUP Dr. Kariadi in 2015 showed that the most common complication in stroke was infection (37.9%). The most common cause of infection was bacteria with antibiotics as the main therapy. It is necessary to monitor the use of antibiotics due to increased cases of antibiotic resistance. Objective: To determine the rationality of antibiotic use in ischemic stroke patients with infections in RSUP Dr. Kariadi Semarang Period 2018.. Method: This research is a descriptive observational study. The sample consisted of 41 medical records of inpatient male ischemic stroke patients at RSUP Dr. Kariadi Semarang in 2018. The use of antibiotics was evaluated using the Gyssens method. Results: The results of evaluation of antibiotics by the Gyssens method showed antibiotic rationality (53%). The most widely used antibiotics ar...
Latar belakang : Berdasarkan data epidemiologi, fenomena peningkatan kadar lipid terjadi di sebagian besar populasi masyarakat. Hal tersebut sering dikaitkan dengan peningkatan prevalensi penyakit kardiovaskular. Dislipidemia adalah... more
Latar belakang : Berdasarkan data epidemiologi, fenomena peningkatan kadar lipid terjadi di sebagian besar populasi masyarakat. Hal tersebut sering dikaitkan dengan peningkatan prevalensi penyakit kardiovaskular. Dislipidemia adalah kelainan metabolisme lipid yang ditandai dengan peningkatan maupun penurunan fraksi lipid dalam plasma. Kubis (Brassica Oleracea var. Capitata L) memiliki kandungan vitamin, serat, mineral, dan antioksidan yang mampu menurunkan kadar LDL serum dan meningkatkan kadar HDL serum. Tujuan : Mengetahui pengaruh pemberian jus kubis dosis 2,5 ml/hari; 3,75 ml/hari; dan 5 ml/hari terhadap kadar HDL serum tikus wistar jantan yang diinduksi kuning telur ayam. Metode : True experimental dengan pre and postest with control group design. Sampel tikus wistar jantan, usia 8-12 minggu yang diinduksi kuning telur. Kelompok perlakuan 1, 2, dan 3 diberikan jus kubis 2,5ml/hari; 3,75ml/hari; dan 5ml/hari secara berturut-turut selama 14 hari. Data dianalisis dengan paired t t...
Objective: This study aims to determine the effect of fortified dadih with vitamin D3 on IL-6 expression level and the concentration of caecum SCFA in obese rats. Methods: A total of 30 male Sprague Dawley rats were divided into five... more
Objective: This study aims to determine the effect of fortified dadih with vitamin D3 on IL-6 expression level and the concentration of caecum SCFA in obese rats. Methods: A total of 30 male Sprague Dawley rats were divided into five equal groups: healthy-control-(K-), obese-control-(K+), obese-intervention-(X1, X2, and X3). K(+), X1, X2, and X3 were in obesity conditions, which was induced by a high-fat sucrose diet (HFSD) and K(-) as a healthy-control-group. Furthermore, vitamin D3-fortified dadih at doses of 4 g/200 g-body-weight/d, dadih only at doses of 4 g/200 g-body-weight/d, and vitamin D3 only at 36 IU/200 g-body-weight/d was administered to X1, X2, and X3 groups, respectively. Results: Treatment using fortified dadih with vitamin D3 showed significantly reduce weight gain (p<0.05) compare to K(+) and X2. In addition, X1 showed a decreased level of Interleukin-6 expression (p<0.05) than K(+), X2, and X3 groups but higher than K(-). Also, it showed the highest total SC...
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Although several genetic factors may play a role in leisure-time exercise behavior, there is currently no evidence of a significant genome-wide association, and candidate gene replication studies have produced inconsistent results. We... more
Although several genetic factors may play a role in leisure-time exercise behavior, there is currently no evidence of a significant genome-wide association, and candidate gene replication studies have produced inconsistent results. We conducted a two-stage genome-wide association study (GWAS) and candidate single nucleotide polymorphisms (SNPs) association study on leisure-time exercise behavior using 13,980 discovery samples from the Japan Multi-Institutional Collaborative Cohort (J-MICC) study, and 2,036 replication samples from the Hospital-based Epidemiologic Research Program at Aichi Cancer Center-2 (HERPACC-2) study. Leisure-time physical activity was measured using a self-administered questionnaire that inquired about the type, frequency and duration of exercise. Participants with ≥ 4 metabolic equivalents-hours per week of leisure-time physical activity were defined as exhibiting leisure-time exercise behavior. Association testing using mixed linear regression models was per...
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Background: Although beneficial associations have been reported between moderate alcohol intake and the serum lipid profile, it is unclear whether polymorphisms in alcohol-metabolizing enzymes can modify these associations. Here, we... more
Background: Although beneficial associations have been reported between moderate alcohol intake and the serum lipid profile, it is unclear whether polymorphisms in alcohol-metabolizing enzymes can modify these associations. Here, we assessed the effects of ADH1B His48Arg (rs1229984), ALDH2 Glu504Lys (rs671), and their combination on these associations. Furthermore, we examined if the findings for ALDH2 could be replicated. Methods: We categorized 889 male participants in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study into two groups based on presence or absence of minor allele(s) or four groups based on genotype combinations. We performed regression analyses of serum lipid concentrations on alcohol intake, with multivariable adjustment. The replication study was conducted among 2,562 men in the Shizuoka part of the J-MICC Study. Results: The ALDH2 Glu=Lys or Lys=Lys groups showed significant decreases in serum low-density lipoprotein (LDL) cholesterol with increasing alcohol consumption; the coefficient per intake increase of 10 g=day was −2.49 mg=dL (95% confidence interval [CI], −3.85 to −1.13), and a significant interaction with the polymorphism was confirmed (P for interaction = 0.006). This inverse correlation was more evident among the ADH1B His=His + ALDH2 Glu=Lys or Lys=Lys groups (−3.24 mg=dL, 95% CI, −5.03 to −1.45). Serum triglycerides were positively associated with alcohol consumption in the ADH1B His=His group (P for interaction = 0.020). The stronger association between serum LDL cholesterol and alcohol consumption in the ALDH2 Glu=Lys or Lys=Lys groups was replicated. Conclusions: The ALDH2 Glu504Lys polymorphism can modify the association between alcohol intake and serum LDL cholesterol in Japanese men.
Coffee is one of the most widely consumed beverages worldwide, and its role in human health has received much attention. Although genome-wide association studies (GWASs) have investigated genetic variants associated with coffee... more
Coffee is one of the most widely consumed beverages worldwide, and its role in human health has received much attention. Although genome-wide association studies (GWASs) have investigated genetic variants associated with coffee consumption in European populations, no such study has yet been conducted in an Asian population. Here, we conducted a GWAS to identify common genetic variations that affected coffee consumption in a Japanese population of 11,261 participants recruited as a part of the Japan Multi-Institutional Collaborative Cohort (J-MICC) study. Coffee consumption was collected using a self-administered questionnaire, and converted from categories to cups/ day. In the discovery stage (n = 6,312), we found 2 independent loci (12q24.12–13 and 5q33.3) that met suggestive significance (P < 1 × 10 −6). In the replication stage (n = 4,949), the lead variant for the 12q24.12–13 locus (rs2074356) was significantly associated with habitual coffee consumption (P = 2.2 × 10 −6), whereas the lead variant for the 5q33.3 locus (rs1957553) was not (P = 0.53). A meta-analysis of the discovery and replication populations, and the combined analysis using all subjects,
Background: An increased risk of total death owing to human T-lymphotropic virus type-I (HTLV-I) infection has been reported. However, its etiology and protective factors are unclear. Various studies reported fluctuations in... more
Background: An increased risk of total death owing to human T-lymphotropic virus type-I (HTLV-I) infection has been reported. However, its etiology and protective factors are unclear. Various studies reported fluctuations in immune-inflammatory status among HTLV-I carriers. We conducted a matched cohort study among the general population in an HTLV-I-endemic region of Japan to investigate the interaction between inflammatory gene polymorphisms and HTLV-I infection for total death, incidence of cancer, and atherosclerosis-related diseases. Method: We selected 2180 sub-cohort subjects aged 35e69 years from the cohort population, after matching for age, sex, and region with HTLV-I seropositives. They were followed up for a maximum of 10 years. Inflammatory gene polymorphisms were selected from TNF-a, IL-10, and NF-kB1. A Cox proportional hazard model was used to estimate the hazard ratio (HR) and the interaction between gene poly-morphisms and HTLV-I for risk of total death and incidence of cancer and atherosclerosis-related diseases. Results: HTLV-I seropositivity rate was 6.4% in the cohort population. The interaction between TNF-a 1031T/C and HTLV-I for atherosclerosis-related disease incidence was statistically significant (p ¼ 0.020). No significant interaction was observed between IL-10 819T/C or NF-kB1 94ATTG ins/del and HTLV-I. An increased HR for total death was observed in the Amami island region, after adjustment of various factors with gene polymorphisms (HR 3.03; 95% confidence interval, 1.18e7.77). Conclusion: The present study found the interaction between TNF-a 1031T/C and HTLV-I to be a risk factor for atherosclerosis-related disease. Further follow-up is warranted to investigate protective factors against developing diseases among susceptible HTLV-I carriers.
Both an angiotensin II receptor blocker, losartan (CAS 124750-99-8) and a serum urate lowering agent, benzbromarone (CAS 3562-84-3) exert a uricosuric action by inhibiting urate transporter 1 (URAT1). A recent clinical trial indicated... more
Both an angiotensin II receptor blocker, losartan (CAS 124750-99-8) and a serum urate lowering agent, benzbromarone (CAS 3562-84-3) exert a uricosuric action by inhibiting urate transporter 1 (URAT1). A recent clinical trial indicated that losartan could reduce the level of serum urate in hypertensive patients treated with urate lowering agents, suggesting the different mode of action of losartan from benzbromarone. In the present study, the effect of losartan and benzbromarone on the level of URAT1 mRNA was determined in transfected HEK293 cells. Losartan caused a significant reduction of its mRNA level, whereas it was not affected by benzbromarone. These results indicate that losartan decreases the level of human URAT1 mRNA, which may underlie the uricosuric action of losartan in hypertensive patients treated with serum urate lowering agents.
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Aim: Observational studies have reported that elevated homocysteine (Hcy) levels are associated with the risk of cardiovascular disease (CVD). However, interventions that lower Hcy do not provide a corresponding risk reduction. Therefore,... more
Aim: Observational studies have reported that elevated homocysteine (Hcy) levels are associated with the risk of cardiovascular disease (CVD). However, interventions that lower Hcy do not provide a corresponding risk reduction. Therefore, the causal role of Hcy in CVD remains unclear. This 5-year prospective study investigated the associations of Hcy levels, folate intake, and host factors with arterial stiffness among the general Japanese population. Methods: We prospectively recruited 658 participants (40 – 69 years old) from the general population during regular health checkup examinations. Arterial stiffness was evaluated using the cardio-ankle vascular index (CAVI) at baseline and the 5-year follow-up. Folate intake was estimated using a struc-tured questionnaire. Genotyping was used to evaluate the MTHFR C677T and MS A2756G gene polymorphisms. Ultrafast liquid chromatography was used to measure total plasma Hcy levels. Association between these variables and CAVI values was evaluated using general linear regression and logistic regression models that were adjusted for atherosclerosis-related factors. Results: Men had higher Hcy levels and CAVI values and lower folate intake than women (all, p 0.001). At baseline, Hcy, folate intake, and the two genotypes were not associated with CAVI values for both sexes. Among men, Hcy levels were positively associated with CAVI values at the 5-year follow up (p 0.033). Folate intake and the two genotypes were not associated with the 5-year CAVI values. Conclusion: Plasma Hcy may be involved in arterial stiffness progression, as monitored using CAVI, among men.
Interactions between dietary patterns and 2 β-adrenergic receptor (ADRβ) gene polymorphisms (ADRβ2 Gln27Glu and ADRβ3 Trp64Arg) were examined with regard to the effects on serum triglyceride levels. The cross-sectional study comprised... more
Interactions between dietary patterns and 2 β-adrenergic receptor (ADRβ) gene polymorphisms (ADRβ2 Gln27Glu and ADRβ3 Trp64Arg) were examined with regard to the effects on serum triglyceride levels. The cross-sectional study comprised 1720 men and women (aged 35–69 years) enrolled in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study. Genotyping was conducted using a multiplex polymerase chain reaction-based invader assay. We used 46 items from a validated short food frequency questionnaire and examined major dietary patterns by factor analysis. We identified four dietary patterns: healthy, Western, seafood and bread patterns. There was no significant association between any dietary pattern and serum triglyceride levels. After a separate genotype-based analysis, significant interactions between ADRβ3 Trp64Arg genotype and the bread pattern (p for interaction = 0.01) were associated with serum triglyceride levels; specifically, after adjusting for confounding factors, Arg allele carriers with the bread pattern had lower serum triglycerides (p for trend = 0.01). However, the Trp/Trp homozygous subjects with the bread pattern showed no association with serum triglycerides (p for trend = 0.55). Interactions between other dietary patterns and ADRβ polymorphisms were not significant for serum triglyceride levels. Our findings suggest that ADRβ3 polymorphism modifies the effects of the bread pattern on triglyceride levels.
Denaturing high-performance liquid chromatography (DHPLC), which has recently been developed as an automated method to detect mutations, is at least ten times less expensive than the direct sequencing method; however, its sensitivity and... more
Denaturing high-performance liquid chromatography (DHPLC), which has recently been developed as an automated method to detect mutations, is at least ten times less expensive than the direct sequencing method; however, its sensitivity and specificity for cardiac myo-sin-binding protein C (MYBPC3) gene mutations in hypertrophic cardiomyopathy have not been reported yet. A mutation analysis of exons 1 to 35 of MYBPC3 gene from 20 Japa-nese patients with hypertrophic cardiomyopathy was performed using DHPLC and direct sequencing. Compared to direct sequencing, the sensitivity and specificity of DHPLC were 87.5 % and 97.42 %, respectively. Its positive and negative predictive values were 41.18 % and 99.74 %. The positive and negative likelihood ratios were 33.95 and 0.13, and the prevalence was 2.02 %. DHPLC showed high sensitivity and specificity for detecting MYBPC3 gene mutations in hypertrophic cardiomyopathy. The use of this complementary sequencing method should reduce the cost of detection of MYBPC3 gene mutations, and could be used to screen patients with hypertrophic cardiomyopathy.