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Aortic root ectasia as a phenotypic feature of a mitochondrial disorder [PDF]

Clinical Case Reports, 2018
Key Clinical Message Mitochondrial disorder (MID) can be suspected upon application of the mitochondrial multiorgan disorder syndrome score; aortic root ectasia (ARE) can be a phenotypic feature of MIDs; ARE in a MID may result from affection of vascular
Josef Finsterer
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Leber’s hereditary optic neuropathy: Update on current diagnosis and treatment

Frontiers in Ophthalmology, 2023
Leber’s hereditary optic neuropathy (LHON) is a fairly prevalent mitochondrial disorder (1:50,000) arising from the dysfunction of the mitochondrial respiratory chain, which eventually leads to apoptosis of retinal ganglion cells.
Ali Esmaeil, Ali Ali, Raed Behbehani
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Use of Next-Generation Sequencing for Identifying Mitochondrial Disorders

Current Issues in Molecular Biology, 2022
Mitochondria are major contributors to ATP synthesis, generating more than 90% of the total cellular energy production through oxidative phosphorylation (OXPHOS): metabolite oxidation, such as the β-oxidation of fatty acids, and the Krebs’s cycle. OXPHOS
Shafi Mahmud, Suvro Biswas, Shamima Afrose, Mohasana Akter Mita, Md. Robiul Hasan, Mst. Sharmin Sultana Shimu, Gobindo Kumar Paul, Sanghyun Chung, Md. Abu Saleh, Sultan Alshehri, Momammed M. Ghoneim, Maha Alruwaily, Bonglee Kim   +12 more
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Anesthetic Considerations in Patients with Mitochondrial Disorders

Indonesian Journal of Anesthesiology and Reanimation (IJAR), 2023
Introduction: Mitochondrial Disorders (1/4,000 patients) are rare and caused by dysfunctional mitochondria. Anesthetic consideration in patients with Mitochondrial Disorders involves careful preoperative and perioperative observations.
Ziske Maritska, Nita Parisa, Mathius Karina, Marco Manza Putra, Noviyanti Eliska, Muhammad Irga, Maya Rina Santara Manurung, Andre Saputra   +7 more
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Mitochondrial complex I deficiency masquerading as stroke-like episode clinically and as alexander disease radiologically following chicken pox

Annals of Indian Academy of Neurology, 2023
Mitochondrial disorders are a group of metabolic disorders with variable presentation and usually affect organs with high energy requirements like the brain, eye, and heart.
Vykuntaraju K Gowda, Arun Y Bylappa, Uddhav Kinhal, Varunvenkat M Srinivasan, Dhananjaya K Vamyanmane   +4 more
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Varying Clinical Phenotypes of Mitochondrial DNA T12811C Mutation: A Case Series Report

Frontiers in Medicine, 2022
The T12811C mitochondrial DNA (mtDNA) mutation has been reported in Leber hereditary optic neuropathy (LHON) previously, with vision loss as the main manifestation.
Qingdan Xu, Ping Sun, Chaoyi Feng, Qian Chen, Xinghuai Sun, Xinghuai Sun, Xinghuai Sun, Yuhong Chen, Yuhong Chen, Guohong Tian, Guohong Tian   +10 more
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The Ginsenoside Rg₁ Rescues Mitochondrial Disorders in Aristolochic Acid-Induced Nephropathic Mice

Life, 2021
Chronic exposure to aristolochic acid (AA) leads to renal interstitial fibrosis and nephropathy. In this study, we aimed to investigate the renoprotective effects of Panax ginseng extract (GE) and ginsenoside saponin (GS) on AA-induced nephropathy (AAN ...
Chu-Kuang Chou, Yu-Shen Huang, Pei-Yu Lin, Kazuhiro Imai, Shih-Ming Chen, Jen-Ai Lee   +5 more
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Mechanotranduction Pathways in the Regulation of Mitochondrial Homeostasis in Cardiomyocytes

Frontiers in Cell and Developmental Biology, 2021
Mitochondria are one of the most important organelles in cardiomyocytes. Mitochondrial homeostasis is necessary for the maintenance of normal heart function.
Hongyu Liao, Yan Qi, Yida Ye, Peng Yue, Donghui Zhang, Yifei Li   +5 more
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A Case of Childhood Onset of Extended Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis Phenotype with Pathogenic Polymerase Gamma Variation

Indian Pediatrics Case Reports, 2023
Background: Ataxia neuropathy spectrum, including sensory ataxia neuropathy, dysarthria, and ophthalmoparesis (SANDO), is a part of polymerase gamma (POLG) gene-related disorder, a heterogeneous group of mitochondrial disorders.
Ami Shah, Shilpa Kulkarni, Snehal Mallakmir, Rashid Merchant   +3 more
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DdCBE mediates efficient and inheritable modifications in mouse mitochondrial genome

Molecular Therapy: Nucleic Acids, 2022
Critical mutations of mitochondrial DNA (mtDNA) generally lead to maternally inheritable diseases that affect multiple organs and systems; however, it was difficult to alter mtDNA in mammalian cells to intervene in or cure mitochondrial disorders ...
Jiayin Guo, Xiaoxu Chen, Zhiwei Liu, Haifeng Sun, Yu Zhou, Yichen Dai, Yu'e Ma, Lei He, Xuezhen Qian, Jianying Wang, Jie Zhang, Yichen Zhu, Jun Zhang, Bin Shen, Fei Zhou   +14 more
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