Mitochondrion最新文献_第5页

Comprehensive analysis of the mitochondrial DNA variants using multivariate covariate and multiple-testing models to enhance reliability reveals potential associations with coronary artery disease traits and dietary preferences 使用多变量协变量和多重检验模型对线粒体DNA变异进行综合分析以提高可靠性，揭示了冠状动脉疾病特征和饮食偏好之间的潜在关联。

IF 4.5 3区生物学 Q2 CELL BIOLOGY

Mitochondrion

Pub Date : 2025-07-19 DOI: 10.1016/j.mito.2025.102069

Aniket Sawant , Irina Griķe , Baiba Vilne

Coronary Artery Diseases (CAD) contribute significantly to the global morbidity and mortality. While genome-wide association studies have identified numerous nuclear genomic variants linked to CAD, these account for less than 20 % of the disease’s estimated heritability (variation in disease risk attributed to genetic factors), suggesting the potential contribution of non-nuclear genetic elements, such as mitochondrial single-nucleotide variants (MT-SNVs). MT-SNVs may also influence lifestyle-related traits, which often interact with genetic predisposition to modulate CAD risk.

Hypothesis: MT-SNVs contribute to the unexplained heritability of CAD and may also be associated with lifestyle behaviours.

Methods

We analysed 203 high-quality common and low-frequency MT-SNVs (minor allele frequency > 0.01) in 20,400 CAD cases (myocardial infarction and/or revascularisation) from the UK Biobank after rigorous quality control and imputation. Associations between MT-SNVs and 85 quantitative food intake traits (FIQTs) and 23 established CAD risk factors (e.g., smoking status, lipid levels, physical activity) using both Frequentist and Bayesian methods. Correlation analyses were performed across these 108 lifestyle behaviours.

Results

Several MT-SNVs were nominally associated with the CAD status and lifestyle habits, including m.10873T > C (MT-ND4 gene), m.15301G > A (MT-CYB gene), m.8701A > G (MT-ATP6 gene), and m.9540T > C (MT-CO3). After adjusting for covariates, these associations did not remain statistically significant. CAD status was significantly but weakly correlated (|r| < 0.2) with 64 dietary preferences of the 108 lifestyle traits (Bonferroni-adjusted P < 0.05), indicating modest but widespread dietary pattern differences.

Conclusions

Our findings suggest that MT-SNVs may explain some of the CAD heritability. However, larger cohorts with more comprehensive mitochondrial data are needed to clarify their potential role.

冠状动脉疾病（CAD）是全球发病率和死亡率的重要组成部分。虽然全基因组关联研究已经确定了许多与CAD相关的核基因组变异，但这些变异占该疾病估计遗传力（遗传因素导致的疾病风险变异）的比例不到20% %，这表明非核遗传因素（如线粒体单核苷酸变异（mt - snv））可能起作用。mt - snv也可能影响与生活方式相关的特征，这些特征通常与调节CAD风险的遗传易感性相互作用。假设：mt - snv有助于CAD的无法解释的遗传性，也可能与生活方式行为有关。方法：我们分析了20,400例CAD（心肌梗死和/或血运重建）病例中203个高质量的常见和低频mt - snv（次要等位基因频率 > 0.01），经过严格的质量控制和imputation。mt - snv与85个定量食物摄入特征（FIQTs）和23个已确定的CAD危险因素（如吸烟状况、脂质水平、身体活动）之间的关联使用Frequentist和Bayesian方法。对这108种生活方式行为进行了相关性分析。结果：几种mt - snv名义上与CAD状态和生活习惯相关，包括m.10873T > C （MT-ND4基因）、m.15301G > A （MT-CYB基因）、m.8701A > G （MT-ATP6基因）和m.9540T > C （MT-CO3）。在调整协变量后，这些关联在统计上并不显著。结论：我们的研究结果表明，mt - snv可能解释了CAD的一些遗传性。然而，需要更大的队列和更全面的线粒体数据来阐明它们的潜在作用。

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引用次数: 0

A Tunisian POLG mutation expands the clinical spectrum of POLG-related disorders 突尼斯POLG突变扩大了POLG相关疾病的临床谱。

IF 3.9 3区生物学 Q2 CELL BIOLOGY

Mitochondrion

Pub Date : 2025-07-11 DOI: 10.1016/j.mito.2025.102071

Abir Zioudi , Ismail Gouiza , Said Galai , Meriem Hechmi , Hedia Klaa , Zouhour Miladi , Thouraya Ben Younes , Hanene Benrhouma , Ilhem Ben Youssef-Turki , Souheil Omar , Guy Lenaers , Rym Kefi , Neziha Gouider-Khouja , Ichraf Kraoua

Mitochondrial Neuro-Gastro-Intestinal Encephalopathy (MNGIE) is a rare and fatal mitochondrial disorder caused by biallelic mutations in the TYMP gene. In rare cases, it can be caused by pathogenic variants in the POLG gene, with a clinical presentation similar to that of TYMP-related MNGIE, except for the absence of leukoencephalopathy.

Here we report the cases of six Tunisian patients presenting with a homogeneous clinical MNGIE-like phenotype, characterized by an early infantile onset. Key features included psychomotor delay or regression, peripheral neuropathy, gastrointestinal disturbances, hypotrophy or growth retardation, and elevated cerebrospinal fluid protein levels. All patients originated from the same governorate and carried the same homozygous POLG variant c.2391G > T (p.Met797Ile), which may suggest a founder effect.

线粒体神经胃肠脑病（MNGIE）是由TYMP基因双等位基因突变引起的一种罕见且致命的线粒体疾病。在极少数情况下，它可以由POLG基因的致病变异引起，临床表现与tymp相关的MNGIE相似，除了没有脑白质病。在这里，我们报告了6例突尼斯患者，他们表现出均匀的临床mgi样表型，其特征是婴儿早期发病。主要特征包括精神运动延迟或消退、周围神经病变、胃肠道紊乱、发育迟缓或生长迟缓以及脑脊液蛋白水平升高。所有患者来自同一省份，携带相同的纯合子POLG变体c.2391G > T (p.Met797Ile)，这可能表明存在奠基人效应。

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引用次数: 0

Novel mutations in MTERF3: First report of a new genetic cause in two Chinese patients with developmental delay, intermittent hypoglycemia and metabolic acidosis MTERF3的新突变：首次报道了两名中国发育迟缓、间歇性低血糖和代谢性酸中毒患者的新遗传原因。

IF 3.9 3区生物学 Q2 CELL BIOLOGY

Mitochondrion

Pub Date : 2025-06-19 DOI: 10.1016/j.mito.2025.102059

Ruoyu Duan , Refiloe Laurentinah Mahlatsi , Ya Wang , Chaolong Xu , Mingzhao Wang , Zhuo Zou , Zhimei Liu , Huafang Jiang , Xin Duan , Jie Deng , Minhan Song , Yun Liu , Hezhi Fang , JianXin Lyu , Fang Fang

MTERF3, a negative regulator of mtDNA transcription, was first identified in 2007.Recent studies have revealed the pivotal role of MTERF3 throughout the entire lifecycle of mtDNA. However, no disease phenotypes have been linked to this gene till now. Genetic testing was performed on two unrelated families. Mitochondrial respiration and OXPHOS complex activity were assessed in patient-derived fibroblasts. An MTERF3 knockdown HEK293 cell line was generated, followed by rescue experiments with wild-type and mutant MTERF3. Two patients mainly presented with developmental delay. Genetic testing identified compound heterozygous variants c.635dup p.(Asn212Lysfs*7) and c.1055C > T p.(Pro352Leu) in Patient 1, and a homozygous variant c.943A > Gp.(Met315Val) in Patient 2. Patient’s fibroblasts and MTERF3 knockdown cells showed impaired mitochondrial respiration and reduced levels of OXPHOS complexes I, III, and IV. Transcription of MT-ND5, ND6, COII, and COIII was reduced, while other mitochondrial genes were upregulated. Wild-type MTERF3 expression restored these defects, but the variant Pro352Leu from patient failed to rescue mitochondrial dysfunction. This study identifies a novel mitochondrial disease phenotype and establishes the first association with MTERF3, expanding the mitochondrial disease spectrum and offering insights into the clinical relevance of the MTERF family.

MTERF3是mtDNA转录的负调控因子，于2007年首次被发现。最近的研究揭示了MTERF3在mtDNA的整个生命周期中的关键作用。然而，到目前为止，还没有疾病表型与该基因有关。基因检测是在两个不相关的家庭进行的。在患者来源的成纤维细胞中评估线粒体呼吸和OXPHOS复合物活性。建立MTERF3敲除HEK293细胞系，然后用野生型和突变型MTERF3进行救援实验。2例主要表现为发育迟缓。基因检测在患者1中发现复合杂合变异体c.635dup p.（Asn212Lysfs*7）和c.1055C > T p.(Pro352Leu)，在患者2中发现纯合变异体c.943A > Gp.（Met315Val）。患者成纤维细胞和MTERF3敲低细胞线粒体呼吸受损，OXPHOS复合物I、III、IV水平降低，MT-ND5、ND6、COII、COIII转录减少，其他线粒体基因上调。野生型MTERF3的表达恢复了这些缺陷，但来自患者的变体Pro352Leu未能挽救线粒体功能障碍。本研究确定了一种新的线粒体疾病表型，并首次建立了与MTERF3的关联，扩大了线粒体疾病谱系，并为MTERF家族的临床相关性提供了见解。

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引用次数: 0

Chlordecone (kepone) induces mitochondrial dysfunction in human cardiac tissue 十氯酮（酮）诱导人心脏组织线粒体功能障碍。

IF 3.9 3区生物学 Q2 CELL BIOLOGY

Mitochondrion

Pub Date : 2025-06-19 DOI: 10.1016/j.mito.2025.102058

Alexia FUNDERE , Marie-Daniela DUBOIS , Magalie VATIN INAMO , Fatima RADOUANI , Prisca JALTA , Dabor RESIERE , Remi NEVIERE

Chlordecone exposure in humans has been associated with increased incidence of prostate cancer, impaired fertility, and fetal/perinatal abnormalities while experiment rodent studies suggest that chlordecone can inhibit magnesium-ATPase, little is known about its mitochondrial toxicity in humans. Our objective was to test whether chlordecone would induce mitochondrial dysfunction in human cardiac cells in ex vivo heart preparations. Biopsies of human atrial tissue were obtained during cannulation for cardiopulmonary bypass from patients who were undergoing programmed cardiac surgery for coronary artery bypass. Cardiac preparations were incubated with vehicle or chlordecone (5 nM and 50 nM) for 24 hr followed by mitochondrial high-resolution oxygraphy studies. Compared with vehicle, chlordecone cardiac exposure at the concentrations of 5 nM and 50 nM impaired mitochondrial respiratory rates. Chlordecone concentrations of 5 nM and 50 nM similarly increased state 2 respiration rate and maximal respiration capacity with no change of state 3 (ADP) respiration rate, which suggests the uncoupling of between mitochondrial oxidative phosphorylation and electron transport through the respiratory chain complexes. In conclusion, our study suggests that chlordecone at clinically relevant concentration impairs mitochondrial function leading to uncoupling, which may induce abnormal cardiac cell responses, including aberrant calcium handling and oxidative stress.

十氯酮暴露于人体内与前列腺癌发病率增加、生育能力受损和胎儿/围产期异常有关，而啮齿类动物实验研究表明，十氯酮可以抑制镁三磷酸腺苷酶，但对其在人体内的线粒体毒性知之甚少。我们的目的是测试十氯酮是否会在离体心脏制剂中诱导人心肌细胞线粒体功能障碍。在体外循环插管期间，从接受程序性心脏手术进行冠状动脉搭桥的患者中获得人类心房组织活检。心脏制剂与载体或十氯酮（5 nM和50 nM）孵育24 小时，然后进行线粒体高分辨率氧成像研究。与对照组相比，浓度为5 nM和50 nM的十氯酮心脏暴露使线粒体呼吸速率受损。浓度为5 nM和50 nM的十氯酮同样增加了状态2呼吸速率和最大呼吸量，而状态3 （ADP）呼吸速率没有变化，这表明线粒体氧化磷酸化和电子通过呼吸链复合物传递之间的解耦合。总之，我们的研究表明，临床相关浓度的十氯酮会损害线粒体功能，导致解偶联，从而可能引起异常的心肌细胞反应，包括异常的钙处理和氧化应激。

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引用次数: 0

Ultrastructural and functional recovery of mitochondria and improved developmental competence by melatonin in oxidatively stressed porcine oocytes 褪黑素对氧化应激猪卵母细胞线粒体超微结构和功能的恢复及发育能力的改善

IF 3.9 3区生物学 Q2 CELL BIOLOGY

Mitochondrion

Pub Date : 2025-06-19 DOI: 10.1016/j.mito.2025.102060

Heyyoung Kim , Seonggyu Bang , Ayeong Han , Heejae Kang , Islam M. Saadeldin , Ahmad Yar Qamar , Sanghoon Lee , Jongki Cho

Mitochondrial dysfunction induced by oxidative stress impairs oocyte maturation and subsequent embryonic development. In this study, we investigated whether melatonin, a potent antioxidant, could mitigate hydrogen peroxide (H₂O₂)-induced mitochondrial damage in porcine oocytes and restore their developmental competence. Oocytes were exposed to H₂O₂ prior to in vitro maturation (IVM), followed by treatment with varying concentrations of melatonin (0, 0.5, 1, and 5 μM). Melatonin treatment significantly improved maturation and blastocyst formation rates, with 1 μM showing the most pronounced effect. This recovery was accompanied by enhanced mitochondrial bioenergetics, which was likely driven by reduced ROS accumulation and increased intracellular glutathione. Melatonin also reversed the ultrastructural abnormalities of mitochondria, reduced apoptotic signals, and normalized mitophagy markers. These findings suggest that melatonin confers mitochondrial protection and promotes oocyte competence under oxidative stress, supporting its therapeutic potential in reproductive biotechnology.

氧化应激诱导的线粒体功能障碍损害卵母细胞成熟和随后的胚胎发育。在这项研究中，我们研究了褪黑激素（一种有效的抗氧化剂）是否可以减轻过氧化氢（H2O2）诱导的猪卵母细胞线粒体损伤，并恢复其发育能力。卵母细胞在体外成熟（IVM）之前暴露于H2O2中，然后用不同浓度的褪黑激素（0、0.5、1和5 μM）处理。褪黑素治疗显著提高了成熟和囊胚形成率，其中以1 μM效果最显著。这种恢复伴随着线粒体生物能量的增强，这可能是由ROS积累减少和细胞内谷胱甘肽增加所驱动的。褪黑素还能逆转线粒体超微结构异常，减少凋亡信号，并使线粒体自噬标记物正常化。这些发现表明，褪黑激素赋予线粒体保护并促进氧化应激下的卵母细胞能力，支持其在生殖生物技术中的治疗潜力。

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引用次数: 0

Machine learning to predict mitochondrial diseases by phenotypes 通过表型预测线粒体疾病的机器学习

IF 3.9 3区生物学 Q2 CELL BIOLOGY

Mitochondrion

Pub Date : 2025-06-18 DOI: 10.1016/j.mito.2025.102061

Chieh-Wen Kuo , Hui-An Chen , Rai-Hseng Hsu , Chao-Szu Wu , Ching Hsu , Ming-Jen Lee , Yin-Hsiu Chien , Hsueh-Wen Hsueh , Feng-Jung Yang , Pi-Chuan Fan , Wen-Chin Weng , Ru-Jen Lin , Ta-Ching Chen , Chih-Chao Yang , Wang-Tso Lee , Wuh-Liang Hwu , Ni-Chung Lee

Diagnosing mitochondrial diseases remains challenging because of the heterogeneous symptoms. This study aims to use machine learning to predict mitochondrial diseases from phenotypes to reduce genetic testing costs. This study included patients who underwent whole exome or mitochondrial genome sequencing for suspected mitochondrial diseases. Clinical phenotypes were coded, and machine learning models (support vector machine, random forest, multilayer perceptron, and XGBoost) were developed to classify patients. Of 103 patients, 43 (41.7%) had mitochondrial diseases. Myopathy and respiratory failure differed significantly between the two groups. XGBoost achieved the highest accuracy (67.5%). In conclusion, machine learning improves patient prioritization and diagnostic yield.

由于症状的异质性，诊断线粒体疾病仍然具有挑战性。本研究旨在利用机器学习从表型预测线粒体疾病，以降低基因检测成本。该研究纳入了因疑似线粒体疾病而接受全外显子组或线粒体基因组测序的患者。对临床表型进行编码，并开发机器学习模型（支持向量机、随机森林、多层感知机和XGBoost）对患者进行分类。103例患者中，43例（41.7%）患有线粒体疾病。肌病和呼吸衰竭在两组间有显著差异。XGBoost达到了最高的精度（67.5%）。总之，机器学习提高了患者的优先级和诊断率。

引用次数: 0

Mitochondrial health, prenatal distress, and gestational age: investigation of cf-mtDNA and GDF15 in two pregnancy studies from the USA and Turkey 线粒体健康、产前窘迫和胎龄：美国和土耳其两项妊娠研究中cf-mtDNA和GDF15的调查

IF 3.9 3区生物学 Q2 CELL BIOLOGY

Mitochondrion

Pub Date : 2025-06-03 DOI: 10.1016/j.mito.2025.102057

Qiuhan Huang , David Shire , Fiona Hollis , Sameera Abuaish , Martin Picard , Catherine Monk , Elif Aysimi Duman , Caroline Trumpff

Background

Pregnancy outcomes are influenced by maternal distress but the pathways underlying these effects are still unknown. Mitochondria, crucial for energy production and stress adaptation, may link psychosocial stress to its biological effects, especially during pregnancy when energy demands significantly increase. This study explores two mitochondrial markers-circulating cell-free mitochondrial DNA (cf-mtDNA) and Growth Differentiation Factor-15 (GDF15)-as potential mitochondrial health indicators linking maternal distress to pregnancy outcomes in two longitudinal studies from the USA and Turkey.

Methods

We analyzed biological, demographic, and psychological data from women in two pregnancy studies: EPI (N = 187, USA) and BABIP (N = 198, Turkey). Data were collected at multiple timepoints during the perinatal period, including late 2nd and 3rd trimester, with EPI also including additional data at early 2nd trimester and 4–14 months postpartum. Prenatal maternal psychological distress was measured as perceived stress, anxiety, and depressive symptoms. Plasma cf-mtDNA and GDF15 levels were assessed using qPCR and ELISA, respectively. Statistical analyses included Wilcoxon signed-rank tests, Spearman correlations, and Mann-Whitney tests.

Results

Plasma cf-mtDNA levels did not significantly vary across pregnancy, while plasma GDF15 levels increased from early to late pregnancy and decreased postpartum. Late 2nd trimester plasma GDF15 was negatively correlated with pre-pregnancy BMI (p = 0.035) and gestational age (p = 0.0048) at birth. Early 2nd trimester maternal distress was associated with lower cf-mtDNA (all p-values < 0.05) and a trend for lower GDF15. Higher pre-pregnancy BMI and late-pregnancy maternal distress were linked to smaller postpartum GDF15 declines in EPI (all p-values < 0.05).

Conclusions

This study identified distinct patterns of plasma cf-mtDNA and GDF15 levels during the perinatal period across studies from two countries, linking these mitochondrial markers to maternal distress and pregnancy outcomes.

背景：妊娠结局受到母亲痛苦的影响，但这些影响背后的途径尚不清楚。线粒体对能量产生和压力适应至关重要，可能将社会心理压力与其生物效应联系起来，特别是在能量需求显著增加的怀孕期间。本研究在美国和土耳其的两项纵向研究中探讨了两种线粒体标记物——循环无细胞线粒体DNA （cf-mtDNA）和生长分化因子-15 （GDF15）——作为潜在的线粒体健康指标，将母亲的痛苦与妊娠结局联系起来。方法：我们分析了两项妊娠研究中妇女的生物学、人口学和心理数据：EPI （N = 187，美国）和BABIP （N = 198，土耳其）。在围产期的多个时间点收集数据，包括妊娠晚期和妊娠晚期，EPI还包括妊娠早期和产后4-14个月 的额外数据。产前母亲的心理困扰被测量为感知压力、焦虑和抑郁症状。分别采用qPCR和ELISA检测血浆cf-mtDNA和GDF15水平。统计分析包括Wilcoxon sign -rank检验、Spearman相关性检验和Mann-Whitney检验。结果：血浆cf-mtDNA水平在妊娠期间无显著差异，而血浆GDF15水平从妊娠早期到晚期升高，产后降低。妊娠晚期血浆GDF15与孕前BMI （p = 0.035）和出生时胎龄（p = 0.0048）呈负相关。结论：本研究在两个国家的研究中发现了围产期血浆中cf-mtDNA和GDF15水平的不同模式，将这些线粒体标志物与孕产妇痛苦和妊娠结局联系起来。

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引用次数: 0

Targeting mitochondrial quality control for myocardial ischemia-reperfusion injury 心肌缺血再灌注损伤的线粒体质量控制

IF 3.9 3区生物学 Q2 CELL BIOLOGY

Mitochondrion

Pub Date : 2025-05-24 DOI: 10.1016/j.mito.2025.102046

Yuxuan He , Sixu Ren , Chenglin Liu , Xiufen Zheng , Cuilin Zhu

Cardiovascular disease (CVD) remains the leading global cause of mortality. Acute myocardial infarction (AMI) refers to acute myocardial ischemia resulting from thrombosis secondary to coronary atherosclerosis, which poses a major threat to human health. Clinically, timely revascularization (reperfusion) represents the basis of clinical treatment for AMI. However, secondary myocardial ischemia–reperfusion injury (MIRI) caused by reperfusion often exacerbates damage, representing a major challenge in clinical practice. Mitochondria represent essential organelles for maintaining cardiac function and cellular bioenergetics in MIRI. In recent years, the role of mitochondrial quality control (MQC) in maintaining cell homeostasis and mediating MIRI has been extensively studied. This review provides a concise overview of MQC mechanisms at the molecular, organelle, and cellular levels and their possible complex regulatory network in MIRI. In addition, potential treatment strategies targeting MQC to mitigate MIRI are summarized, highlighting the gap between current preclinical research and clinical transformation. Overall, this review provides theoretical guidance for further research and clinical translational studies.

心血管疾病（CVD）仍然是全球主要的死亡原因。急性心肌梗死（Acute myocardial infarction， AMI）是指冠状动脉粥样硬化继发的血栓形成导致的急性心肌缺血，对人类健康构成重大威胁。在临床上，及时的再灌注是AMI临床治疗的基础。然而，再灌注引起的继发性心肌缺血-再灌注损伤（MIRI）往往会加剧损伤，这是临床实践中的一个主要挑战。线粒体是维持心脏功能和细胞生物能量的重要细胞器。近年来，线粒体质量控制（MQC）在维持细胞稳态和介导MIRI中的作用得到了广泛的研究。本文综述了MIRI在分子、细胞器和细胞水平上的MQC机制及其可能的复杂调控网络。此外，总结了针对MQC缓解MIRI的潜在治疗策略，强调了目前临床前研究与临床转化之间的差距。综上所述，本文为进一步的研究和临床转化研究提供了理论指导。

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引用次数: 0

Auditory neuropathy spectrum disorder and related auditory features in patients with hearing loss associated with the MT-TS1 m.7471dup variant MT-TS1 m.7471dup变异相关听力损失患者的听神经病变谱障碍和相关听觉特征

IF 3.9 3区生物学 Q2 CELL BIOLOGY

Mitochondrion

Pub Date : 2025-05-20 DOI: 10.1016/j.mito.2025.102056

Shujiro Minami , Amina Kida , Satomi Inoue , Haruka Murakami , Noriko Morita , Akira Takagi , Takeshi Usui , Tomoko Sugiuchi , Kazuki Yamazawa , Kiyomitsu Nara , Hideki Mutai , Tatsuo Matsunaga

The m.7471dup variant of mitochondrial-tRNA Ser (UCN) (MT-TS1) is associated with sensorineural hearing loss (SNHL), neurological abnormalities, or both. Phenotypic variations in SNHL associated with the m.7471dup variant were the focus of our investigation. Five Japanese families carrying the variant were subjected to comprehensive genetic and clinical evaluations and audiometric testing. Notably, two families presented with auditory neuropathy spectrum disorder (ANSD), and two other families presented with auditory brainstem response thresholds much higher than those expected from the pure-tone audiometry results, which is analogous to ANSD. This is the first study to demonstrate that the m.7471dup variant can be associated with ANSD or similar characteristics. The penetrance of the m.7471dup variant was 71.4 % overall, with 100 % penetrance in cases with homoplasmy and 42.9 % penetrance in cases with heteroplasmy. Disease onset was congenital or early onset (≤ 6 years) in 80 % of the patients. The hearing levels ranged from normal to profound, and four subjects presented with neurological or psychiatric abnormalities. About 80 % of subjects who had newborn hearing screening passed the screening, suggesting late-onset or progressive hearing loss. These findings underscore the importance of rigorous follow-up evaluations, genetic counseling, and evaluation of educational environment considerations for patients carrying the m.7471dup variant.

线粒体- trna Ser (UCN) （MT-TS1）的m.7471dup变异与感音神经性听力损失（SNHL）、神经异常或两者兼而有之有关。与m.7471dup变异相关的SNHL表型变异是我们研究的重点。携带该变异的5个日本家庭接受了全面的遗传和临床评估以及听力测试。值得注意的是，两个家庭表现为听觉神经病变谱系障碍（ANSD），另外两个家庭表现为听觉脑干反应阈值远高于纯音听力学结果的预期值，这与ANSD类似。这是第一个证明m.7471dup变异可能与ANSD或类似特征相关的研究。m.7471dup变异的总体外显率为71.4 %，同质外显率为100 %，异质外显率为42.9% %。80% %的患者为先天性或早发性（≤6年）。听力水平从正常到深度不等，四名受试者表现出神经或精神异常。约80% %新生儿听力筛查的受试者通过筛查，提示迟发性或进行性听力损失。这些发现强调了对携带m.7471dup变异的患者进行严格的随访评估、遗传咨询和教育环境评估的重要性。

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引用次数: 0

Corrigendum to “In vitro studies in VCP-associated multisystem proteinopathy suggest altered mitochondrial bioenergetics” [Mitochondrion 22 (2015) 1–8] “体外vcp相关多系统蛋白病研究表明线粒体生物能量改变”[线粒体22(2015)1-8]的勘误表。

IF 3.9 3区生物学 Q2 CELL BIOLOGY

Mitochondrion

Pub Date : 2025-05-07 DOI: 10.1016/j.mito.2025.102044

Angèle Nalbandian , Katrina J. Llewellyn , Arianna Gomez , Naomi Walker , Hailing Su , Andrew Dunnigan , Marilyn Chwa , Jouni Vesa , M.C. Kenney , Virginia E. Kimonis

引用次数: 0