Article
Agriculture, Dairy & Animal Science
Israa A. Fadhil, Mohammed Baqur S. Al-Shuhaib
Summary: This study assessed the role of mitochondrial 12S rRNA variations in discriminating between two Iraqi breeds of sheep. It found that there were phylogenetic differences between the two breeds and recommended the use of these 12S rRNA variations as genetic markers.
ANIMAL BIOTECHNOLOGY
(2022)
Article
Genetics & Heredity
Malgorzata Natonek-Wisniewska, Piotr Krzyscin, Dominika Rubis
Summary: The study identified differences in the genome of Rouen ducks compared to other popular duck breeds through species identification methods and developed two new primer pairs for DNA identification. One primer pair allows for breed-independent identification of duck DNA, while the other distinguishes Rouen ducks from Chinese and Indian Runner ducks. Both methods are highly sensitive (0.05%).
Article
Medicine, Research & Experimental
Nathaniel K. Mullin, Andrew P. Voigt, Miles J. Flamme-Wiese, Xiuying Liu, Megan J. Riker, Katayoun Varzavand, Edwin M. Stone, Budd A. Tucker, Robert F. Mullins
Summary: Variants in the high copy number mitochondrial genome can disrupt organelle function and lead to severe multisystem disease. Heteroplasmy, the uneven distribution of abnormal mtDNA molecules in different cells and tissues, contributes to the wide range of manifestations observed in patients with mitochondrial disease. This study reveals the nonrandom nature of mitochondrial variant distribution in human mitochondrial disease, highlighting its importance for understanding pathogenesis and developing treatments.
Article
Biochemistry & Molecular Biology
Feilong Meng, Zidong Jia, Jing Zheng, Yanchun Ji, Jing Wang, Yun Xiao, Yong Fu, Meng Wang, Feng Ling, Min-Xin Guan
Summary: In this study, we investigated the molecular mechanism of the m.5783C > T mutation associated with deafness. We found that this mutation significantly affects mitochondrial DNA replication and tRNA metabolism, leading to mitochondrial dysfunction and the occurrence of deafness.
NUCLEIC ACIDS RESEARCH
(2022)
Article
Biochemistry & Molecular Biology
Chao Chen, Min-Xin Guan
Summary: This study reports the generation of induced pluripotent stem cells (iPSCs) from lymphoblastoid cell lines of individuals from an Arab-Israeli family with different mutations related to hearing loss. The researchers corrected a mutation using CRISPR/Cas9 in iPSCs derived from a hearing-impaired individual. Differentiation of these iPSCs into ear epithelial progenitor cells and inner ear hair cell-like cells revealed defects in morphology and function, with greater defects observed in cells carrying multiple mutations. Transcriptome analysis of patient-derived cells showed altered gene expression related to hair cell mechanotransduction. Genetic correction of specific mutations led to recovery in morphology and function. These findings provide insights into the underlying mechanisms of inherited hearing loss and offer potential for therapeutic interventions.
HUMAN MOLECULAR GENETICS
(2022)
Article
Genetics & Heredity
Hyung-Bae Jeon, Jumin Jun, Seung-Ho Choi, Ho Young Suk
Summary: Gobioidei is a large vertebrate taxa with over 2000 species, mainly consisting of the families Gobiidae and Oxudercidae, with 19 lineages proposed. The common ancestor of Gobiidae and Oxudercidae appeared around 38.66 million years ago, with genus-level splits occurring predominantly during the Miocene and late Miocene to early Pleistocene.
MITOCHONDRIAL DNA PART B-RESOURCES
(2021)
Article
Genetics & Heredity
Yuqing Liu, Shuai Zhao, Xiaolei Chen, Yuehong Bian, Yongzhi Cao, Peiwen Xu, Changming Zhang, Jiangtao Zhang, Shigang Zhao, Han Zhao
Summary: This case-control study found an association between mtDNA variations and early embryonic development defects in infertile Chinese women, particularly in the d-loop region, ATP6 gene, and CYTB gene.
Article
Multidisciplinary Sciences
Takeshi Kawakami, Vandana Raghavan, Alison L. Ruhe, Meghan K. Jensen, Ausra Milano, Thomas C. Nelson, Adam R. Boyko
Summary: This study identified a genomic region and a specific genetic mutation associated with early onset adult deafness (EOAD) in Rhodesian Ridgebacks, providing valuable insights for understanding hearing disorders in both dogs and humans.
Article
Audiology & Speech-Language Pathology
Anthony Wright, Andrew Forge, Daniel J. Jagger
Summary: The human stria vascularis was examined in individuals who had received loop diuretics, aminoglycoside antibiotics, or a combination of the two. Structural changes were observed in the stria vascularis, which were similar to those seen in animal models. The study highlights the importance of using animal models to predict human ototoxicity.
Article
Biochemistry & Molecular Biology
Hiroki Kobayashi, Hideyuki Hatakeyama, Haruna Nishimura, Mutsumi Yokota, Sadafumi Suzuki, Yuri Tomabechi, Mikako Shirouzu, Hiroyuki Osada, Masakazu Mimaki, Yu-ichi Goto, Minoru Yoshida
Summary: Mitochondrial DNA mutations cause mitochondrial diseases, leading to various phenotypic abnormalities in cells. A small-molecule compound called tryptolinamide (TLAM) was discovered to activate mitochondrial respiration and rescue defects in neuronal differentiation in iPSCs with a high ratio of mutant mtDNA by inhibiting PFK1 and promoting AMPK-mediated fatty-acid oxidation. TLAM redirects carbon flow from glycolysis to the pentose phosphate pathway to enhance anti-oxidative potential. These findings suggest that PFK1 could be a potential therapeutic target for mitochondrial diseases.
NATURE CHEMICAL BIOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Mouna Habbane, Julio Montoya, Taha Rhouda, Yousra Sbaoui, Driss Radallah, Sonia Emperador
Summary: Mitochondria are the cell's powerhouses, with their own DNA that can be subject to mutations leading to diseases. Molecular genetics diagnosis allows for analysis of these mutations, while next generation sequencing contributes to faster diagnosis by sequencing the entire human genome in a day.
Review
Physiology
Anton Vila-Sanjurjo, Natalia Mallo, John F. Atkins, Joanna L. Elson, Paul M. Smith
Summary: Altered mito-ribosomal fidelity, especially in the case of ototoxic variants, is a significant cause of mitochondrial dysfunction. The connection between fidelity defects at the mito-ribosomal level and phenotypic manifestation is not well understood. Recent studies have provided insights into the complexities of the phenotypic manifestation and the pathogenic nature of altered mito-ribosome function. This review compares the molecular details of mito-ribosomal fidelity to general ribosomal fidelity, explores the phenotypes associated with defective translational fidelity, and discusses future research directions.
FRONTIERS IN PHYSIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Haruna Tani, Kaori Ishikawa, Hiroaki Tamashiro, Emi Ogasawara, Takehiro Yasukawa, Shigeru Matsuda, Akinori Shimizu, Dongchon Kang, Jun-Ichi Hayashi, Fan-Yan Wei, Kazuto Nakada
Summary: This study established a mouse model carrying a pathogenic mutation in the mitochondrial tRNA gene, associated with metabolic syndrome-like symptoms. The mutation led to decreased protein levels and reduced Complex I activity in mitochondria, providing insights into the molecular basis of mutation-mediated mitochondrial disorders.
NUCLEIC ACIDS RESEARCH
(2022)
Article
Genetics & Heredity
Yu Ding, Yaoshu Teng, Qinxian Guo, Jianhang Leng
Summary: The presence of the m.4394C>T mutation in addition to the m.1555A>G mutation enhances mitochondrial dysfunctions and contributes to a higher penetrance of hearing loss in affected families.
Article
Physiology
Anton Vila-Sanjurjo, Natalia Mallo, Joanna L. Elson, Paul M. Smith, Emma L. Blakely, Robert W. Taylor
Summary: In recent years, significant progress has been made in understanding the structure and function of the mammalian mito-ribosome. Researchers are now focusing on unveiling the phenotypic effects of mtDNA variants that affect mito-ribosome functioning. A study analyzed 93 mt-rRNA variants associated with deafness and assessed their structural and functional role, including those located at non-conserved positions. The results provide new insights into the implications of mt-rRNA sequence in the etiology of deafness and mitochondrial disease, highlighting the influence of haplotype context on the manifestation of mt-rRNA variants.
FRONTIERS IN PHYSIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Shasha Gong, Xiaoqiong Wang, Feilong Meng, Limei Cui, Qiuzi Yi, Qiong Zhao, Xiaohui Cang, Zhiyi Cai, Jun Qin Mo, Yong Liang, Min-Xin Guan
JOURNAL OF BIOLOGICAL CHEMISTRY
(2020)
Article
Biochemistry & Molecular Biology
Yanchun Ji, Juanjuan Zhang, Yuanyuan Lu, Qiuzi Yi, Mengquan Chen, Shipeng Xie, Xiaoting Mao, Yun Xiao, Feilong Meng, Minglian Zhang, Rulai Yang, Min-Xin Guan
JOURNAL OF BIOLOGICAL CHEMISTRY
(2020)
Article
Medicine, Research & Experimental
Jialing Yu, Xiaoyang Liang, Yanchun Ji, Cheng Ai, Junxia Liu, Ling Zhu, Zhipeng Nie, Xiaofen Jin, Chenghui Wang, Juanjuan Zhang, Fuxin Zhao, Shuang Mei, Xiaoxu Zhao, Xiangtian Zhou, Minglian Zhang, Meng Wang, Taosheng Huang, Pingping Jiang, Min-Xin Guan
JOURNAL OF CLINICAL INVESTIGATION
(2020)
Article
Biochemistry & Molecular Biology
Yun Xiao, Meng Wang, Qiufen He, Lei Xu, Qinghai Zhang, Feilong Meng, Zidong Jia, Fengguo Zhang, Haibo Wang, Min-Xin Guan
NUCLEIC ACIDS RESEARCH
(2020)
Article
Biology
Shu Zhao, Jia Shi, Guohua Yu, Dali Li, Meng Wang, Chonggang Yuan, Huihui Zhou, Amirabbas Parizadeh, Zhenlin Li, Min-Xin Guan, Shixin Ye
COMMUNICATIONS BIOLOGY
(2020)
Article
Biochemistry & Molecular Biology
Qiufen He, Xiao He, Yun Xiao, Qiong Zhao, Zhenzhen Ye, Limei Cui, Ye Chen, Min-Xin Guan
Summary: The study showed significant tissue-specific differences in mammalian mitochondrial tRNA expression, correlating with mtDNA contents but not with 2-thiouridylation levels of specific tRNAs. Aminoacylation levels of mt-tRNAs varied among tissues, with a negative correlation observed between levels and mitochondrial tRNA synthetases expression. Differential levels of OXPHOS subunits encoded by mtDNA or nuclear genes may reflect functional emphasis for mitochondria in each tissue.
JOURNAL OF BIOLOGICAL CHEMISTRY
(2021)
Article
Biochemistry & Molecular Biology
Shihao Yao, Boyuan Ma, Qiuzi Yi, Min-Xin Guan, Xiaohui Cang
Summary: The study focuses on the conserved m-gate network in the mitochondrial ADP/ATP carrier, revealing interactions between residues and the promoting effect of CATR on symmetry. These findings provide new insights into the highly conserved yet variable networks within the mitochondrial carrier family.
Article
Biochemistry & Molecular Biology
Wenlu Fan, Xiaoye Jin, Man Xu, Yongmei Xi, Weiguo Lu, Xiaohang Yang, Min-Xin Guan, Wanzhong Ge
Summary: Mutations in genes encoding mitochondrial aminoacyl-tRNA synthetases are associated with various diseases, but the precise mechanisms remain unclear. Using a Drosophila model, researchers found that inactivation of dFARS2 leads to developmental delay and seizure, and modeling human disease-associated FARS2 variants in Drosophila demonstrated their role in inducing neurological disorders. This study highlights the importance of mitochondrial aminoacylation system dysfunction in pathologies and the potential of Drosophila model for functional analysis of human disease-causing variants.
NUCLEIC ACIDS RESEARCH
(2021)
Article
Biochemistry & Molecular Biology
Chao Chen, Min-Xin Guan
Summary: This study reports the generation of induced pluripotent stem cells (iPSCs) from lymphoblastoid cell lines of individuals from an Arab-Israeli family with different mutations related to hearing loss. The researchers corrected a mutation using CRISPR/Cas9 in iPSCs derived from a hearing-impaired individual. Differentiation of these iPSCs into ear epithelial progenitor cells and inner ear hair cell-like cells revealed defects in morphology and function, with greater defects observed in cells carrying multiple mutations. Transcriptome analysis of patient-derived cells showed altered gene expression related to hair cell mechanotransduction. Genetic correction of specific mutations led to recovery in morphology and function. These findings provide insights into the underlying mechanisms of inherited hearing loss and offer potential for therapeutic interventions.
HUMAN MOLECULAR GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Min Liang, Yanchun Ji, Liyao Zhang, Xuan Wang, Cuifang Hu, Juanjuan Zhang, Yiwei Zhu, Jun Q. Mo, Min-Xin Guan
Summary: LHON is a maternally inherited eye disease caused by mitochondrial DNA mutations. A specific mutation has been found to affect the structure and function of complex I, leading to mitochondrial dysfunction and cell apoptosis.
HUMAN MOLECULAR GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Zhipeng Nie, Chenhui Wang, Jiarong Chen, Yanchun Ji, Hongxing Zhang, Fuxin Zhao, Xiangtian Zhou, Min-Xin Guan
Summary: This study provides new insights into the pathophysiology of LHON by analyzing retinal ganglion cell-like cells derived from induced pluripotent stem cells (iPSCs) from a Chinese family. The mitochondrial dysfunctions caused by specific mutations affect the development, morphology, and functions of the cells. Individuals carrying both mutations exhibit more severe defects compared to those carrying a single mutation.
HUMAN MOLECULAR GENETICS
(2023)
Article
Cell Biology
Yanchun Ji, Juanjuan Zhang, Min Liang, Feilong Meng, Minglian Zhang, Jun Q. Mo, Meng Wang, Min-Xin Guan
Summary: This study found that mitochondrial tRNA variants play an important role in the development of LHON, accounting for 8.75% of cases in the Han Chinese population. These new findings may have beneficial applications in the pathophysiology, disease management, and genetic counseling of LHON.
Article
Biochemistry & Molecular Biology
Feilong Meng, Zidong Jia, Jing Zheng, Yanchun Ji, Jing Wang, Yun Xiao, Yong Fu, Meng Wang, Feng Ling, Min-Xin Guan
Summary: In this study, we investigated the molecular mechanism of the m.5783C > T mutation associated with deafness. We found that this mutation significantly affects mitochondrial DNA replication and tRNA metabolism, leading to mitochondrial dysfunction and the occurrence of deafness.
NUCLEIC ACIDS RESEARCH
(2022)
Article
Cell Biology
Jing Wang, Yanchun Ji, Cheng Ai, Jia-Rong Chen, Dingyi Gan, Juanjuan Zhang, Jun Q. Mo, Min-Xin Guan
Summary: In this study, it was shown that allotopic expression of the nucleus-versions of ND6 can restore complex I, apoptosis, and mitophagy deficiencies caused by the m.14484T > C mutation. Restoring mitochondrial dysfunctions caused by the m.14484T > C mutation through overexpression of ND6 is a step towards therapeutic interventions for LHON and mitochondrial diseases.
JOURNAL OF BIOMEDICAL SCIENCE
(2023)
Review
Cell Biology
Chao Chen, Min-Xin Guan
Summary: Mitochondria are essential organelles for cellular metabolism and physiology, and mtDNA mutations are associated with a wide range of degenerative and neuromuscular diseases. However, the pathophysiology of mitochondrial diseases, especially threshold effect and tissue specificity, is not well understood and effective treatment is lacking. Using patients-derived iPSCs as ex vivo models has advanced our understanding of the pathophysiology of maternally inherited diseases and has potential for therapeutic interventions.
JOURNAL OF BIOMEDICAL SCIENCE
(2023)