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Mutational Screening for Mitochondrial tRNA Genes in 100 Women with Pre-eclampsia. 对 100 名子痫前期妇女的线粒体 tRNA 基因进行突变筛选。
IF 1.8 4区 生物学 Q3 Biochemistry, Genetics and Molecular Biology Pub Date : 2022-07-18 DOI: 10.1159/000525663
Baohua Zhou, Xuelian Chu, Caijuan Zhang, Xiufeng Liang

Objectives: Impairment of mitochondrial function caused by pathogenic mitochondrial DNA (mtDNA) mutations has been found to be associated with pre-eclampsia (PE). However, the underlying mechanism of PE remains poorly undetermined. The aim of this study is to evaluate the relationship between mitochondrial tRNAs (mt-tRNAs) variants and PE.

Material and methods: The mt-tRNAs variants in a cohort of 100 pregnant women with PE and 100 healthy subjects were examined by PCR-Sager sequencing. Moreover, the phylogenetic conservation analysis, mitochondrial haplogroup analysis, as well as pathogenicity scoring system were used to assess the potential pathogenicity of these tRNA variants.

Results: We identified five possible pathogenic mt-tRNA variants: tRNAPhe A608G, tRNAIle A4263G, tRNAAla T5587C, tRNALeu(CUN) G12294C and tRNAPro G15995A. We noticed that these variants were not detected in control subjects and occurred at the positions which were extremely conserved. Alternations in tRNAs structure caused by these variants may lead to the failures in tRNAs metabolism, which may subsequently may lead to the impairment of mitochondrial translation, as well as the respiratory chain functions. Thus, mt-tRNA variants may be involved in the pathogenesis of PE.

Conclusions: Taken together, our data indicated that variants in mt-tRNA genes were the important contributors to PE; screening for mt-tRNA variants was recommended for early detection and prevention of PE.

目的:已发现致病性线粒体 DNA(mtDNA)突变导致的线粒体功能损害与子痫前期(PE)有关。然而,子痫前期的基本机制仍未确定。本研究旨在评估线粒体 tRNAs(mt-tRNAs)变异与子痫前期之间的关系:材料和方法:通过 PCR-Sager 测序法检测了 100 名患有 PE 的孕妇和 100 名健康受试者的 mt-tRNAs 变异。此外,还利用系统发育保护分析、线粒体单倍群分析以及致病性评分系统来评估这些 tRNA 变异的潜在致病性:我们发现了五个可能致病的 mt-tRNA 变异:tRNAPhe A608G、tRNAIle A4263G、tRNAAla T5587C、tRNALeu(CUN) G12294C 和 tRNAPro G15995A。我们注意到,这些变异在对照组中没有检测到,而且发生在极为保守的位置上。这些变异引起的 tRNA 结构交替可能导致 tRNA 代谢失调,进而可能导致线粒体翻译和呼吸链功能受损。因此,mt-tRNA 变异可能与 PE 的发病机制有关:综上所述,我们的数据表明,mt-tRNA 基因变异是导致 PE 的重要因素;建议筛查 mt-tRNA 变异以早期发现和预防 PE。
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引用次数: 0
Penalized Logistic Regression Analysis for Genetic Association Studies of Binary Phenotypes. 二元表型遗传关联研究的惩罚性逻辑回归分析
IF 1.8 4区 生物学 Q3 Biochemistry, Genetics and Molecular Biology Pub Date : 2022-06-29 DOI: 10.1159/000525650
Ying Yu, Siyuan Chen, Samantha Jean Jones, Rawnak Hoque, Olga Vishnyakova, Angela Brooks-Wilson, Brad McNeney

Introduction: Increasingly, logistic regression methods for genetic association studies of binary phenotypes must be able to accommodate data sparsity, which arises from unbalanced case-control ratios and/or rare genetic variants. Sparseness leads to maximum likelihood estimators (MLEs) of log-OR parameters that are biased away from their null value of zero and tests with inflated type 1 errors. Different penalized-likelihood methods have been developed to mitigate sparse-data bias. We study penalized logistic regression using a class of log-F priors indexed by a shrinkage parameter m to shrink the biased MLE towards zero. For a given m, log-F-penalized logistic regression may be easily implemented using data augmentation and standard software.

Method: We propose a two-step approach to the analysis of a genetic association study: first, a set of variants that show evidence of association with the trait is used to estimate m; and second, the estimated m is used for log-F-penalized logistic regression analyses of all variants using data augmentation with standard software. Our estimate of m is the maximizer of a marginal likelihood obtained by integrating the latent log-ORs out of the joint distribution of the parameters and observed data. We consider two approximate approaches to maximizing the marginal likelihood: (i) a Monte Carlo EM algorithm (MCEM) and (ii) a Laplace approximation (LA) to each integral, followed by derivative-free optimization of the approximation.

Results: We evaluate the statistical properties of our proposed two-step method and compared its performance to other shrinkage methods by a simulation study. Our simulation studies suggest that the proposed log-F-penalized approach has lower bias and mean squared error than other methods considered. We also illustrate the approach on data from a study of genetic associations with "super senior" cases and middle aged controls.

Discussion/conclusion: We have proposed a method for single rare variant analysis with binary phenotypes by logistic regression penalized by log-F priors. Our method has the advantage of being easily extended to correct for confounding due to population structure and genetic relatedness through a data augmentation approach.

导言:越来越多的二元表型遗传关联研究的逻辑回归方法必须能够适应数据稀疏性,而数据稀疏性是由不平衡的病例对照比率和/或罕见遗传变异引起的。稀疏性会导致对数-OR 参数的最大似然估计值(MLE)偏离其零值,并导致测试的 1 类误差增大。为了减轻稀疏数据偏差,人们开发了不同的惩罚似然法。我们研究的惩罚性逻辑回归使用了一类以收缩参数 m 为索引的 log-F 先验,将有偏差的 MLE 缩减为零。对于给定的 m,使用数据增强和标准软件可以轻松实现 log-F 惩罚逻辑回归:我们提出了一种分两步分析遗传关联研究的方法:首先,使用一组显示与性状关联证据的变异体来估计 m;其次,使用标准软件进行数据扩增,将估计的 m 用于所有变异体的 log-F-penalized logistic 回归分析。我们对 m 的估计是通过对参数和观察数据的联合分布中的潜在 log-OR 进行积分而得到的边际似然的最大化。我们考虑了边际似然最大化的两种近似方法:(i) 蒙特卡罗电磁算法 (MCEM);(ii) 每个积分的拉普拉斯近似 (LA),然后对近似值进行无导数优化:我们评估了所提出的两步法的统计特性,并通过模拟研究将其性能与其他收缩方法进行了比较。模拟研究表明,与其他方法相比,我们提出的对数-F-惩罚法具有更低的偏差和均方误差。我们还在一项关于 "超高龄 "病例和中年对照组遗传关联的研究数据中对该方法进行了说明:我们提出了一种通过 log-F 先验惩罚的逻辑回归分析二元表型的单一罕见变异的方法。我们的方法有一个优点,即可以通过数据扩增法轻松扩展到校正因种群结构和遗传亲缘关系造成的混杂。
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引用次数: 0
Common variants in Neuraminidases genes contribute to predisposition to and progression of chronic heart failure. 神经氨酸酶基因的常见变异导致慢性心力衰竭的易感性和进展。
IF 1.8 4区 生物学 Q3 Biochemistry, Genetics and Molecular Biology Pub Date : 2022-06-28 DOI: 10.1159/000525713
Shiyang Li, Yuehong Wang, Xiaobing Zeng, Yanyu Zhang, Shihai Wang, Yuyong Liu, Dawen Xu, Jianjun Lan, Dong Hu

Introduction The role of neuraminidases in cardiovascular disease has recently gained increasing attention. However, the association between neuraminidase gene polymorphisms and heart failure (HF) has not yet been investigated. Methods and Results Genotyping of nine single nucleotide polymorphisms (SNPs) in the NEU2/NEU3/NEU4 genes was performed in 610 HF patients and 600 healthy controls from the Southwest Han Chinese population using TaqMan SNP Genotyping Assay. Individuals carrying the A allele of rs11545301 had decreased risk of HF (additive model: OR=0.704, 95% CI=0.511-0.97; P = 0.032). While the C allele of rs2293763 increased the risk of HF in recessive model (OR=1.486, 95% CI=1.095-2.012; P = 0.011). Rs2233384, rs2233394 and rs2293763 were significantly associated with the mortality risk of HF in dominant model, both with and without adjustment for conventional risk factors (HR= 0.686, 95% CI= 0.52-0.906, P = 0.008 for rs2233384; HR= 1.357, 95% CI= 1.035-1.78, P = 0.027 for rs2233384 and HR= 0.76, 95% CI= 0.592-0.975; P = 0.031 for rs2293763). Conclusion Our findings demonstrated the association between a series of variants in NEU2/NEU4 genes and the risk or prognosis of HF in Han Chinese Population. These data suggested an important role of NEU2 and NEU4 in the pathogenesis of HF.

引言 神经氨酸酶在心血管疾病中的作用近来日益受到关注。然而,神经氨酸酶基因多态性与心力衰竭(HF)之间的关系尚未得到研究。方法和结果 使用 TaqMan SNP 基因分型分析法对西南汉族人群中的 610 名心房颤动患者和 600 名健康对照者进行了 NEU2/NEU3/NEU4 基因中 9 个单核苷酸多态性(SNPs)的基因分型。rs11545301的A等位基因携带者罹患心房颤动的风险降低(加性模型:OR=0.704,95% CI=0.511-0.97;P=0.032)。而在隐性模型中,rs2293763的C等位基因会增加患心房颤动的风险(OR=1.486,95% CI=1.095-2.012;P=0.011)。在显性模型中,Rs2233384、rs2233394 和 rs2293763 与 HF 的死亡风险显著相关,无论是否对常规风险因素进行调整(HR= 0.686,95% CI=0.52-0.906,rs2233384的P=0.008;rs2233384的HR=1.357,95% CI=1.035-1.78,P=0.027;rs2293763的HR=0.76,95% CI=0.592-0.975,P=0.031)。结论 我们的研究结果表明,在中国汉族人群中,NEU2/NEU4 基因的一系列变异与心房颤动的风险或预后有关。这些数据表明 NEU2 和 NEU4 在心房颤动的发病机制中起着重要作用。
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引用次数: 0
Identification of a novel mutation in patients with type A insulin resistance syndrome. a型胰岛素抵抗综合征患者一个新突变的鉴定
IF 1.8 4区 生物学 Q3 Biochemistry, Genetics and Molecular Biology Pub Date : 2022-06-03 DOI: 10.1159/000525223
Liling Zhao, Hongmei Dai, Qin Zhang, Wenmu Hu, Ping Jin

Introduction: Type A insulin resistance syndrome is a rare type of congenital insulin resistance often caused by heterozygous mutations in the insulin receptor gene (INSR). The aim of this study is to explore the clinical and genetic characteristics of three patients with type A insulin resistance syndrome from two Chinese families.

Methods: The peripheral blood samples were collected from each family members. Whole-exome sequencing were performed on three patients.

Results: Patient #1 was diagnosed with hyperinsulinemia at the age of 11 years and presented with hirsutism, acanthosis nigricans, and polycystic ovaries by 13 years. A heterozygous c.3470A > G mutation in the INSR gene was identified in patient #1. Patient #2 was a 13-year-old girl who presented with insulin resistance, polycystic ovary, and hyperandrogenemia. A novel c.3601C > G INSR mutation was identified in patient #2. Co-segregated analysis showed that the c.3601C > G mutation was also found in her father, who had hyperinsulinemia and diabetes mellitus, which was consistent with autosomal dominant inheritance. SIFT and PolyPhen-2 predicted that the c.3470A > G and c.3601C > G mutations in INSR had damaging effects.

Conclusion: Our study expands the genotypic and phenotypic spectrum of type A insulin resistance syndrome. Awareness of the clinical features coupled with INSR gene screening is key to early detection and active intervention.

引言:A型胰岛素抵抗综合征是一种罕见的先天性胰岛素抵抗,通常由胰岛素受体基因(INSR)的杂合突变引起。本研究的目的是探讨来自两个中国家庭的三名A型胰岛素抵抗综合征患者的临床和遗传特征。方法:采集每个家庭成员的外周血样本。对三名患者进行了全外显子组测序。结果:1号患者在11岁时被诊断为高胰岛素血症,13岁时出现多毛症、黑棘皮病和多囊卵巢。在1号患者中发现了INSR基因中的杂合c.3470A>G突变。2号患者是一名13岁的女孩,表现为胰岛素抵抗、多囊卵巢和高雄激素血症。在2号患者中发现了一个新的c.3601C>G INSR突变。共分离分析显示,在她的父亲身上也发现了c.3601C>G突变,他患有高胰岛素血症和糖尿病,这与常染色体显性遗传一致。SIFT和PolyPhen-2预测INSR中的c.3470A>G和c.3601C>G突变具有破坏作用。结论:我们的研究扩展了A型胰岛素抵抗综合征的基因型和表型谱。对临床特征的认识结合INSR基因筛查是早期发现和积极干预的关键。
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引用次数: 0
The mitochondrial tRNAAsp T7561C, tRNAHis C12153T and A12172G mutations may be associated with essential hypertension in a Han Chinese pedigree. 线粒体tRNAAspT7561C、tRNAHisC12153T和A12172G突变可能与原发性高血压相关
IF 1.8 4区 生物学 Q3 Biochemistry, Genetics and Molecular Biology Pub Date : 2022-03-28 DOI: 10.1159/000524163
Haiying Fu, Jinming Sun, Xiaoyan Xu

Objectives: Mutations in mitochondrial tRNA (mt-tRNA) are the important causes for maternally inherited hypertension, however, the pathophysiology of mt-tRNA mutations in clinical expression of hypertension remains poorly understood.

Material and methods: In this study, we report the molecular features of a Han Chinese pedigree with maternally transmitted essential hypertension. The entire mitochondrial genomes are PCR amplified and sequenced, Moreover, phylogenetic analysis, haplogroup analysis, as well as pathogenicity scoring system are used to assess the potential roles for mtDNA mutations.

Results: Strikingly, among ten matrilineal relatives, three of them suffer from variable degree of hypertension at different age at onset. Sequence analysis of the complete mitochondrial genomes suggests the presence of three possible pathogenic mtDNA mutations: tRNAAsp T7561C, tRNAHis C12153T and A12172G, together with a set of variants belonging to East Asian mitochondrial haplogroup M7a. Interestingly, the T7561C mutation occurs at position 44 in the variable region of tRNAAsp, while the C12153T and A12172G mutations are localized at extremely conserved nucleotides in the D-arm and anticodon stem of tRNAHis gene, respectively, which are critical for tRNA steady-state level and function.

Conclusions: Mitochondrial T7561C, C12153T and A12172G mutations may lead to the failure in tRNAs metabolism, and cause mitochondrial dysfunction that is responsible for hypertension. However, the homoplasmy form of mt-tRNA mutations, incomplete penetrance of hypertension suggest that T7561C, C12153T and A12172G mutations are insufficient to produce the clinical phenotype, hence, other risk factors such as environmental factors, nuclear genes and epigenetic modifications may contribute to the phenotypic manifestation of maternally inherited hypertension in this Chinese pedigree.

目的:线粒体tRNA(mt-tRNA)突变是母体遗传性高血压的重要原因;然而,mt-tRNA突变在高血压临床表达中的病理生理学仍然知之甚少。材料与方法:本研究报告了一个原发性高血压母系遗传的汉族家系的分子特征。对整个线粒体基因组进行PCR扩增和测序。此外,系统发育分析、单倍群分析以及致病性评分系统用于评估mtDNA突变的潜在作用。结果:10位母系亲属中,3位在不同发病年龄段有不同程度的高血压。完整线粒体基因组的序列分析表明,存在三种可能的致病性mtDNA突变:tRNAAsp T7561C、tRNAHis C12153T和A12172G,以及一组属于东亚线粒体单倍群M7a的变体。有趣的是,T7561C突变发生在tRNAAsp可变区的44位,而C12153T和A12172G突变分别位于tRNAHis基因的D臂和反密码子茎中极其保守的核苷酸处,这对tRNA稳态水平和功能至关重要。结论:线粒体T7561C、C12153T和A12172G突变可能导致tRNA代谢失败,并导致线粒体功能障碍,这是高血压的原因。然而,mt-tRNA突变的同源性形式,高血压的不完全外显率表明T7561C、C12153T和A12172G突变不足以产生临床表型;因此,环境因素、核基因和表观遗传学修饰等其他危险因素可能有助于该中国家系母系遗传性高血压的表型表现。
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引用次数: 0
Genetic Analyses of Enamel Hypoplasia in Multiethnic Cohorts. 多种族群体釉质发育不全的遗传分析。
IF 1.8 4区 生物学 Q3 Biochemistry, Genetics and Molecular Biology Pub Date : 2022-02-16 DOI: 10.1159/000522642
Rasha N Alotaibi, Brian J Howe, Lina M Moreno Uribe, Carla Sanchez, Frederic W B Deleyiannis, Carmencita Padilla, Fernando A Poletta, Ieda M Orioli, Carmen J Buxó, George L Wehby, Alexandre R Vieira, Jeffrey Murray, Consuelo Valencia-Ramírez, Claudia P Restrepo Muñeton, Ross E Long, John R Shaffer, Steven E Reis, Seth M Weinberg, Katherine Neiswanger, Daniel W McNeil, Mary L Marazita

Enamel hypoplasia causes reduction in the thickness of affected enamel and is one of the most common dental anomalies. This defect is caused by environmental and/or genetic factors that interfere with tooth formation, emphasizing the importance of investigating enamel hypoplasia on an epidemiological and genetic level. A genome-wide association of enamel hypoplasia was performed in multiple cohorts, overall comprising 7,159 individuals ranging in age from 7-82 years. Mixed-models were used to test for genetic association while simultaneously accounting for relatedness and genetic population structure. Meta-analysis was then performed. More than 5 million single-nucleotide polymorphisms were tested in individual cohorts. Analyses of the individual cohorts and meta-analysis identified association signals close to genome-wide significance (P < 510-8), and many suggestive association signals (510-8 < P < 510-6) near genes with plausible roles in tooth/enamel development. The strongest association signal (P = 1.5710-9) was observed near BMP2K in one of the individual cohorts. Additional suggestive signals were observed near genes with plausible roles in tooth development in the meta-analysis, such as SLC4A4 which can influence enamel hypoplasia. Additional human genetic studies are needed to replicate these results and functional studies in model systems are needed to validate our findings.

釉质发育不全导致受影响的釉质厚度减少,是最常见的牙齿畸形之一。这种缺陷是由干扰牙齿形成的环境和/或遗传因素造成的,因此从流行病学和遗传学的角度研究釉质发育不全问题非常重要。我们在多个队列中对釉质发育不全进行了全基因组关联研究,这些队列共有 7159 人,年龄在 7-82 岁之间。研究采用混合模型检验遗传关联性,同时考虑亲缘关系和遗传群体结构。然后进行元分析。在单个队列中检测了 500 多万个单核苷酸多态性。通过对个体队列和元分析的分析,发现了接近全基因组意义的关联信号(P < 510-8),以及在牙齿/珐琅质发育中具有合理作用的基因附近的许多提示性关联信号(510-8 < P < 510-6)。最强烈的关联信号(P = 1.5710-9)出现在一个个体队列中的 BMP2K 附近。在荟萃分析中,还在对牙齿发育有合理作用的基因附近观察到了其他提示性信号,如可影响釉质发育不全的 SLC4A4。需要进行更多的人类基因研究来复制这些结果,还需要在模型系统中进行功能研究来验证我们的发现。
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引用次数: 0
Identification of CHEK2 germline mutations in BRCA1/2 and PALB2 negative breast and ovarian cancer patients. 在 BRCA1/2 和 PALB2 阴性乳腺癌和卵巢癌患者中发现 CHEK2 基因突变。
IF 1.8 4区 生物学 Q3 Biochemistry, Genetics and Molecular Biology Pub Date : 2022-01-06 DOI: 10.1159/000521369
Fuat Aksoy, Havva Tezcan Unlu, Gulsah Cecener, Gamze Guney Eskiler, Unal Egeli, Berrin Tunca, Ecem Efendi Erdem, Kazım Senol, Mustafa Sehsuvar Gokgoz

Introduction: The CHEK2 gene is known to be an important signal transducer involved in DNA repair, apoptosis, or cell cycle arrest in response to DNA damage. The mutations in this gene have been associated with a wide range of cancers, both sporadic and hereditary. Germline CHEK2 mutations are linked to an increased risk of breast cancer. Therefore, the aim of this study was to identify the prevalence of CHEK2 variants in BRCA1/2 and PALB2 negative early-onset patients with breast cancer and/or ovarian cancer in a Turkish population for the first time.

Methods: The study included 95 patients with BRCA1/2 and PALB2 negative early-onset breast cancer and/or ovarian cancer and also 60 unaffected women. All the intron/exon boundaries and coding exons of CHEK2 were subjected to mutational analysis by heteroduplex analysis and DNA sequencing.

Results: A total of 16 CHEK2 variants were found in breast cancer patients within the Turkish population. CHEK2 c.1100delC mutation studied in the CHEK2 gene most frequently was not detected in our study. The prevalence of variants of uncertain significance in CHEK2 was found to be 7.3% (n= 7) in BRCA1/2 and PALB2 mutation negative Turkish patients with early-onset breast and/or ovarian cancer.

Discussion/conclusion: The present study may shed light on alternative variations that could be significant for understanding the prevalence and clinical suitability of the CHEK2 gene.

简介众所周知,CHEK2 基因是一个重要的信号转导子,参与 DNA 修复、细胞凋亡或因 DNA 损伤而导致的细胞周期停滞。该基因的突变与多种散发性和遗传性癌症有关。CHEK2基因突变与乳腺癌风险增加有关。因此,本研究旨在首次确定土耳其人群中 BRCA1/2 和 PALB2 阴性早发乳腺癌和/或卵巢癌患者中 CHEK2 变异的发生率:研究对象包括 95 名 BRCA1/2 和 PALB2 阴性早发乳腺癌和/或卵巢癌患者以及 60 名未受影响的女性。通过杂合双工分析和 DNA 测序对 CHEK2 的所有内含子/外显子边界和编码外显子进行突变分析:结果:在土耳其人群中的乳腺癌患者中共发现了 16 个 CHEK2 变异。在我们的研究中,没有发现最常见的 CHEK2 基因 c.1100delC 突变。在BRCA1/2和PALB2基因突变阴性的土耳其早发乳腺癌和/或卵巢癌患者中,CHEK2中意义不确定的变异的发生率为7.3%(n= 7):本研究可能揭示了对了解 CHEK2 基因的患病率和临床适用性具有重要意义的其他变异。
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引用次数: 0
Screening for Mitochondrial tRNA Mutations in 318 Patients with Dilated Cardiomyopathy. 筛查 318 名扩张型心肌病患者的线粒体 tRNA 突变。
IF 1.8 4区 生物学 Q3 Biochemistry, Genetics and Molecular Biology Pub Date : 2022-01-06 DOI: 10.1159/000521615
Yujuan Qi, Zhenhua Wu, Yaobang Bai, Yan Jiao, Peijun Li

Objectives: Dilated cardiomyopathy (DCM) is a complex cardiovascular disease with unknown etiology. Although nuclear genes play active roles in DCM, mitochondrial dysfunction was believed to be involved in the pathogenesis of DCM. The objective of this study is to analysis the association between mitochondrial tRNA (mt-tRNA) mutations and DCM.

Material and methods: We performed a mutational analysis of mt-tRNA genes in a cohort of 318 patients with DCM and 200 age- and gender-matched control subjects. To further assess their pathogenicity, phylogenetic analysis and mitochondrial functions including mtDNA copy number, ATP and ROS were analyzed.

Results: 7 possible pathogenic mutations: MT-TL1 3302A>G, MT-TI 4295A>G, MT-TM 4435A>G, MT-TA 5655T>C, MT-TH 12201T>C, MT-TE 14692A>G and MT-TT 15927G>A were identified in DCM group but absent in controls. These mutations occurred at extremely conserved nucleotides of corresponding tRNAs, and led to the failure in tRNAs metabolism. Moreover, a significant reduction in ATP and mtDNA copy number, whereas a markedly increased in ROS level were observed in polymononuclear leukocytes (PMNs) derived from the DCM patients carrying these mt-tRNA mutations, suggesting that these mutations may cause mitochondrial dysfunction that was responsible for DCM.

Conclusions: Our data indicated that mt-tRNA mutations may be the molecular basis for DCM, which shaded novel insight into the pathophysiology of DCM that was manifestated by mitochondrial dysfunction.

目的:扩张型心肌病(DCM)是一种病因不明的复杂心血管疾病。虽然核基因在 DCM 中发挥着积极作用,但线粒体功能障碍被认为与 DCM 的发病机制有关。本研究旨在分析线粒体 tRNA(mt-tRNA)突变与 DCM 之间的关联:我们对 318 例 DCM 患者和 200 例年龄和性别匹配的对照组进行了 mt-tRNA 基因突变分析。为了进一步评估这些基因的致病性,我们还对系统发生学分析和线粒体功能(包括 mtDNA 拷贝数、ATP 和 ROS)进行了分析:7种可能的致病突变:结果:在 DCM 组中发现了 7 个可能的致病突变:MT-TL1 3302A>G、MT-TI 4295A>G、MT-TM 4435A>G、MT-TA 5655T>C、MT-TH 12201T>C、MT-TE 14692A>G 和 MT-TT 15927G>A,但在对照组中没有发现。这些突变发生在相应 tRNA 极其保守的核苷酸上,导致了 tRNA 代谢的失败。此外,在携带这些mt-tRNA突变的DCM患者的多核白细胞(PMN)中观察到ATP和mtDNA拷贝数明显减少,而ROS水平明显升高,这表明这些突变可能导致线粒体功能障碍,而线粒体功能障碍是DCM的罪魁祸首:我们的数据表明,mt-tRNA突变可能是DCM的分子基础,这为我们揭示以线粒体功能障碍为表现形式的DCM病理生理学提供了新的视角。
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引用次数: 0
50th European Mathematical Genetics Meeting (EMGM) 2022. 2022年第50届欧洲数学遗传学会议
IF 1.1 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2022-01-01 Epub Date: 2022-04-20 DOI: 10.1159/000524615
Jennifer Asimit
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引用次数: 0
Front & Back Matter 正面和背面事项
IF 1.8 4区 生物学 Q3 Biochemistry, Genetics and Molecular Biology Pub Date : 2021-12-01 DOI: 10.1159/000521474
G. Dahlberg
{"title":"Front & Back Matter","authors":"G. Dahlberg","doi":"10.1159/000521474","DOIUrl":"https://doi.org/10.1159/000521474","url":null,"abstract":"","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":null,"pages":null},"PeriodicalIF":1.8,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43991123","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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Human Heredity
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