Article
Gastroenterology & Hepatology
Dayan Sun, Zhenmin Niu, Hong-Xiang Zheng, Fei Wu, Liuyiqi Jiang, Tian-Quan Han, Yang Wei, Jiucun Wang, Li Jin
Summary: In this study, a significant association of mtDNA 827A>G with familial gallstone disease was found in a Chinese population. The 827G cybrids showed impaired mitochondrial function and disrupted cholesterol transportation, leading to an accelerated development of gallstones. These findings provide a biological basis for the clinical diagnosis and prevention of gallstone disease in the future.
CELLULAR AND MOLECULAR GASTROENTEROLOGY AND HEPATOLOGY
(2021)
Article
Genetics & Heredity
Randa Alaqeely, Bader H. Alhajeri, Faisal Almathen, Hasan Alhaddad
Summary: The study aimed to examine the breed status and inter-population relationships of dromedary camel-types through analyzing sequence variation in the mtDNA. 48 polymorphic sites were identified within the sequenced mitochondrial region, contributing to 82 unique haplotypes across 37 camel-types. The nucleotide diversity and haplotype diversity observed across the dromedary-types when all sequences were combined were 0.0026 and 0.725 respectively.
FRONTIERS IN GENETICS
(2021)
Article
Genetics & Heredity
Xin Li, Xianpeng Zhang, Ting Yu, Liping Ye, Ting Huang, Ying Chen, Shuhan Liu, Youfeng Wen
Summary: This study investigated the maternal genetic landscape of Tibetans and found that they have obvious East Asian characteristics. Lhasa Tibetans clustered with other highland Tibeto-Burman speakers and showed genetic similarity with northern Han people and geographically adjacent populations. The study further revealed the maternal continuity on the Tibetan Plateau and the genetic connection between Tibetans and millet farmers in the Yellow River Basin.
FRONTIERS IN GENETICS
(2023)
Article
Neurosciences
Amber Watts, Prabhakar Chalise, Jinxiang Hu, Dongwei Hui, Judy Pa, Shea J. Andrews, Elias K. Michaelis, Russell H. Swerdlow
Summary: This study examined the role of mitochondrial DNA (mtDNA) in cognitive decline, specifically in the domain of verbal memory. The results showed that individuals carrying the J haplogroup had lower baseline performance and slower rates of improvement in verbal memory compared to those carrying the H haplogroup. No significant differences were observed in executive function or attention. Further research is needed to investigate the underlying mechanisms by which mtDNA affects cognitive performance in different domains across haplogroups.
JOURNAL OF ALZHEIMERS DISEASE
(2022)
Article
Ophthalmology
Ana Rubin Panvini, Anzor Gvritishvili, Hannah Galvan, Sonali R. Nashine, Shari R. Atilano, M. Cristina Kenney, Joyce Tombran-Tink
Summary: Mitochondrial dysfunction is associated with retinal degenerative diseases, and this study investigates the effects of different mtDNA haplogroups (H and J) on cellular response to oxidative stress. The results show significant differences in structural and functional aspects between H and J haplogroups, suggesting that J haplogroup may increase cellular susceptibility to stress and retinal degenerations.
EXPERIMENTAL EYE RESEARCH
(2022)
Article
Toxicology
Amy L. Ball, Katarzyna M. Bloch, Lucille Rainbow, Xuan Liu, John Kenny, Jonathan J. Lyon, Richard Gregory, Ana Alfirevic, Amy E. Chadwick
Summary: Mitochondrial DNA is highly polymorphic and can affect human population diversity and susceptibility to adverse drug reactions. Platelets offer a practical model for studying drug-induced mitochondrial dysfunction, with evidence showing that variation in mitochondrial genotype may impact sensitivity to mitochondrial toxicants.
ARCHIVES OF TOXICOLOGY
(2021)
Review
Endocrinology & Metabolism
Agnieszka H. Ludwig-Slomczynska, Markus Rehm
Summary: Cellular energy metabolism is regulated by two genomes, the nuclear genome and the mitochondrial genome, which coevolve and affect cellular processes and metabolic diseases. Variations in the mitochondrial genome can influence cellular metabolism and physiology, and are associated with the onset of metabolic diseases.
Article
Genetics & Heredity
Rajan Kumar Jha, Chhavi Dawar, Qurratulain Hasan, Akhilesh Pujar, Gaurav Gupta, Venugopalan Y. Vishnu, Ramesh Kekunnaya, Kumarasamy Thangaraj
Summary: The study revealed that LHON cases are mainly caused by three primary variants, but there are still patients without these primary variants who carry other LHON-associated variants. Additionally, no individual haplogroups were explicitly associated with LHON, while two specific variants showed a significant association with the LHON phenotype.
Article
Biochemistry & Molecular Biology
Chia-Wei Liou, Shih-Hsuan Chen, Tsu-Kung Lin, Meng-Han Tsai, Chiung-Chih Chang
Summary: Studies on patients with Alzheimer's disease carrying different alleles of the apolipoprotein E (APOE) gene show higher oxidative levels, lower antioxidative levels, and lower mitochondrial DNA copy numbers. Additionally, the APOE4 allele is associated with oxidative stress biomarkers and mtCN. Cholinesterase inhibitor therapy may benefit AD patients by reducing oxidative stress and manipulating mtCN.
Article
Biotechnology & Applied Microbiology
Jukka Kiiskila, Jari Jokelainen, Laura Kytovuori, Ilona Mikkola, Pirjo Harkonen, Sirkka Keinanen-Kiukaanniemi, Kari Majamaa
Summary: Following a standard-dose training period, subjects with mtDNA haplogroups J or K showed less excellence in endurance performance compared to subjects with non-JK haplogroups, with this difference being more pronounced among the best-performing individuals.
Article
Anthropology
Zheng Ren, Yuhang Feng, Hongling Zhang, Qiyan Wang, Meiqing Yang, Yubo Liu, Cuiyun Le, Jie Wang, Jiang Huang
Summary: This study analyzed the sequences and haplogroups of the mitochondrial DNA control region in a typical Dong population in Guizhou, China. The findings revealed 180 haplotypes assigned to 97 different haplogroups. The Guizhou Dong showed the closest genetic relationship with the Han and Miao populations in China, as well as with the Punjab and Kashmiri populations in Pakistan and other world populations.
ANNALS OF HUMAN BIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Yu Ding, Shunrong Zhang, Qinxian Guo, Jianhang Leng
Summary: This study investigated two Han Chinese families with maternally inherited type 2 diabetes mellitus (T2DM) and identified mitochondrial DNA mutations that are associated with the clinical presentations of T2DM. Further analysis revealed that these mutations led to mitochondrial dysfunction and increased oxidative stress, which worsened the progression of diabetes. Therefore, this study is of significant importance for understanding the mechanism of T2DM.
Article
Anthropology
Yuhang Feng, Hongling Zhang, Qiyan Wang, Meiqing Yang, Yubo Liu, Jie Wang, Jiang Huang, Zheng Ren
Summary: The study analyzed the mitochondrial DNA control region in a typical Sui population, identifying 161 haplotypes and assigning samples to 80 different haplogroups. The Sui population was found to be most closely related to the Miao population in Guizhou and the Han population in Henan, as well as the Punjab and Pukhtunkhwa populations in Pakistan, and significantly differed from 43 other populations, indicating relative isolation. These findings can help establish a forensic DNA reference database in East Asia and provide insight for future anthropological research.
ANNALS OF HUMAN BIOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Siarhei A. Dabravolski, Varvara A. Orekhova, Mirza S. Baig, Evgeny E. Bezsonov, Antonina Starodubova, Tatyana Popkova, Alexander N. Orekhov
Summary: Diabetes mellitus and related disorders are closely related to mitochondrial dysfunction. Specific types of mitochondrial diabetes, such as MIDD and DAD, have been identified. Mutations in mitochondrial DNA cause hereditary mitochondrial disorders, with tissue-specific phenotypes depending on the level of heteroplasmy.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biotechnology & Applied Microbiology
Weilu Wu, Shijie Zhou, Tianmin Liu, Dongni Liang
Summary: In this study, the researchers investigated the role of mitochondrial transcription factor B2 (TFB2M) in ovarian cancer. They found that higher TFB2M expression is associated with poor survival in ovarian cancer patients. TFB2M overexpression promotes M2 macrophage infiltration via a cytosolic mtDNA/TLR9/NF-κ B/IL-6 pathway.
Article
Oncology
Xunjun Yang, Xiuchan Guo, Yao Chen, Guorong Chen, Yin Ma, Kate Huang, Yuning Zhang, Qiongya Zhao, Cheryl A. Winkler, Ping An, Jianxin Lyu
Article
Medicine, Research & Experimental
Shixuan Hua, Meinan Li, Qiongya Zhao, Junyi Wang, Yaping Zhou, Jiangtao Liu, Hezhi Fang, Minghua Jiang, Lijun Shen
MOLECULAR THERAPY-NUCLEIC ACIDS
(2019)
Article
Oncology
Ke Nie, Jin Li, Xujun He, Yuqing Wang, Qiongya Zhao, Miaomiao Du, Hongwei Sun, Jinjing Wang, Jianxin Lyu, Hezhi Fang, Liqin Jin
Article
Genetics & Heredity
Deyu Chen, Qiongya Zhao, Jingting Xiong, Xiaoting Lou, Qinxia Han, Xiujuan Wei, Jie Xie, Xueyun Li, Huaibin Zhou, Lijun Shen, Yanling Yang, Hezhi Fang, Jianxin Lyu
MOLECULAR GENETICS & GENOMIC MEDICINE
(2020)
Article
Oncology
Xianglai Ye, Xiujuan Wei, Jing Liao, Peipei Chen, Xueyun Li, Yulong Chen, Yue Yang, Qiongya Zhao, Hongwei Sun, Liming Pan, Guorong Chen, Xujun He, Jianxin Lyu, Hezhi Fang
Summary: The study identified an uncharacterized protein, HPDL, positively associated with the development and prognosis of pancreatic ductal adenocarcinoma (PDAC). HPDL regulates mitochondrial bioenergetics and glutamine metabolism to promote tumor cell proliferation.
FRONTIERS IN ONCOLOGY
(2021)
Article
Cell Biology
Hezhi Fang, Xianglai Ye, Jie Xie, Yuanyuan Li, Haiyan Li, Xinzhu Bao, Yue Yang, Zifan Lin, Manli Jia, Qing Han, Jingjing Zhu, Xueyun Li, Qiongya Zhao, Yanling Yang, Jianxin Lyu
Summary: This study reveals the assembly pathways of mitochondrial respirasome and identifies a subcomplex of complex I as the scaffold for respirasome assembly. It suggests that TIMMDC1 may function as a respirasome assembly factor, and provides a detailed model of cooperative assembly in the later stages of respirasome formation.
Article
Oncology
Yilin Pang, Guoqiang Tan, Xunjun Yang, Yuanshan Lin, Yao Chen, Jinping Zhang, Ting Xie, Huaibin Zhou, Jun Fang, Qiongya Zhao, Xiaojun Ren, Jianghui Li, Jianxin Lyu, Zheng Wang
Summary: The study found that LYRM4 mRNA and protein levels were upregulated in LIHC, with LYRM4 mRNA expression related to clinical stratifications, prognosis, and survival of LIHC patients. Key iron-sulphur proteins were significantly overexpressed in LIHC, leading to metabolic reprogramming. LYRM4 expression in LIHC was significantly positively correlated with infiltrating levels of immune cells and prognosis.
CANCER CELL INTERNATIONAL
(2021)
Article
Cell Biology
Hezhi Fang, Anran Xie, Miaomiao Du, Xueyun Li, Kaiqiang Yang, Yinxu Fu, Xiangshu Yuan, Runxiao Fan, Weidong Yu, Zhuohua Zhou, Tiantian Sang, Ke Nie, Jin Li, Qiongya Zhao, Zhehui Chen, Yanling Yang, Chaoyang Hong, Jianxin Lyu
Summary: The study revealed that MEGD(H)EL syndrome shares clinical and molecular features with mtDNA depletion syndrome, which is mainly caused by insufficient supply of nucleotides. The supplementation of nucleosides/nucleotides may be an effective therapeutic strategy for MEGD(H)EL syndrome, as it can restore mtDNA content and mitochondrial function.
SCIENCE TRANSLATIONAL MEDICINE
(2022)
Article
Endocrinology & Metabolism
Miaomiao Du, Xueyun Li, Fangyi Xiao, Yinxu Fu, Yu Shi, Sihan Guo, Lifang Chen, Lu Shen, Lan Wang, Huang Cheng, Hao Li, Anran Xie, Yaping Zhou, Kaiqiang Yang, Hezhi Fang, Jianxin Lyu, Qiongya Zhao
Summary: This study demonstrates the importance of SERAC1 protein in lipid metabolism in mice. Serac1 deficiency prevents high-fat diet-induced obesity without affecting energy expenditure. It impairs cholesterol transfer from the liver to the serum and leads to an imbalance in cholesterol distribution. Moreover, Serac1 deficiency may decrease the risk of diet-induced hepatic steatosis.
METABOLISM-CLINICAL AND EXPERIMENTAL
(2022)
Article
Zoology
Qiong-Ya Zhao, Ling-Hong Ge, Kun Zhang, Hai-Feng Chen, Xin-Xin Zhan, Yue Yang, Qing-Lin Dang, Yi Zheng, Huai-Bin Zhou, Jian-Xin Lyu, He-Zhi Fang
ZOOLOGICAL RESEARCH
(2020)