Mitochondrial disease and epilepsy in children by Xuan Zhang, Xuan Zhang, Xuan Zhang, Bo Zhang, Bo Zhang, Bo Zhang, Zhiming Tao, Zhiming Tao, Zhiming Tao, Jianmin Liang, Jianmin Liang, Jianmin Liang

“…Epilepsy is a prevalent neurological disorder in children and is also a frequent manifestation of mitochondrial disease. The exact mechanisms underlying epilepsy in mitochondrial disease remain unclear and are thought to involve multiple contributing factors. …”
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Sleep Disordered Breathing in Children with Mitochondrial Disease by Ricardo A. Mosquera, Mary Kay Koenig, Rahmat B. Adejumo, Justyna Chevallier, S. Shahrukh Hashmi, Sarah E. Mitchell, Susan E. Pacheco, Cindy Jon

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Mitochondrial disease registries worldwide: A scoping review. by Ammanie Abdul-Fatah, Leila Esmaeilisaraji, Crisel Mae Juan, Martin Holcik

“…<h4>Background</h4>Mitochondrial diseases are a large group of genetically heterogeneous and clinically diverse disorders. …”
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Mitochondrial diseases: from molecular mechanisms to therapeutic advances by Haipeng Wen, Hui Deng, Bingyan Li, Junyu Chen, Junye Zhu, Xian Zhang, Shigeo Yoshida, Yedi Zhou

“…This review focuses on the physiological mechanisms of mitochondria, the pathogenesis of mitochondrial diseases, and potential diagnostic and therapeutic applications. …”
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An Adverse Outcome Pathway Linking Organohalogen Exposure to Mitochondrial Disease by Brooke McMinn, Alicia L. Duval, Christie M. Sayes

“…Here, we present an AOP framework that depicts how exposure to organohalogens can lead to mitochondrial disease. Organohalogens are disinfectant by-products (DBPs) found in our drinking water. …”
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Mapping mitochondrial morphology and function: COX-SBFSEM reveals patterns in mitochondrial disease by Julie Faitg, Tracey Davey, Ross Laws, Conor Lawless, Helen Tuppen, Eric Fitton, Doug Turnbull, Amy E. Vincent

“…Here we apply COX-SBFSEM to muscle samples from patients with single, large-scale mtDNA deletions, a cause of mitochondrial disease. These deletions cause oxidative phosphorylation deficiency, which can be observed through changes in COX activity. …”
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Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease by Lindsey Van Haute, Petra Páleníková, Jia Xin Tang, Pavel A Nash, Mariella T Simon, Angela Pyle, Monika Oláhová, Christopher A Powell, Pedro Rebelo-Guiomar, Alexander Stover, Michael Champion, Charulata Deshpande, Emma L Baple, Karen L Stals, Sian Ellard, Olivia Anselem, Clémence Molac, Giulia Petrilli, Laurence Loeuillet, Sarah Grotto, Tania Attie-Bitach, Jose E Abdenur, Robert W Taylor, Michal Minczuk

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Clinical spectrum, treatment and outcomes of the m.10197G>A mutation in MT-ND3: a case report, systematic review and meta-analysis by YuZhi Shi, Bin Chen, SongTao Niu, XinGao Wang, ZaiQiang Zhang

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An exploratory study to evaluate efficacy and safety of frequent Transcutaneous Electrical Stimulation for Leber Hereditary Optic Neuropathy by Fumio Takano, Kaori Ueda, Takuji Kurimoto, Mina Arai, Takayuki Nagai, Yuko Yamada-Nakanishi, Makoto Nakamura

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Therapies for Mitochondrial Disorders by Kayli Sousa Smyth, Anne Mulvihill

Subjects: “…mitochondrial diseases…”
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Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis by Kohta Nakamura, Yukiko Yatsuka, Sachie Naito, Akira Hasegawa, Takeya Kasukawa, Atsushi Kondo, Yoshihito Kishita, Yohei Sugiyama, Takanori Onuki, Tomohiro Ebihara, Tomoko Tsuruoka, Takuya Fushimi, Akira Ohtake, Kei Murayama, Atsuko Imai‐Okazaki, Yasushi Okazaki

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NADH Reductive Stress and Its Correlation with Disease Severity in Leigh Syndrome: A Pilot Study Using Patient Fibroblasts and a Mouse Model by Tamaki Ishima, Natsuka Kimura, Mizuki Kobayashi, Chika Watanabe, Eriko F. Jimbo, Ryosuke Kobayashi, Takuro Horii, Izuho Hatada, Kei Murayama, Akira Ohtake, Ryozo Nagai, Hitoshi Osaka, Kenichi Aizawa

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Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function by Dong Li, Elizabeth Bhoj, Elizabeth McCormick, Fengxiang Wang, James Snyder, Tiancheng Wang, Yan Zhao, Cecilia Kim, Rosetta Chiavacci, Lifeng Tian, Marni J. Falk, Hakon Hakonarson

“…Due to the concern for mitochondrial disease, ophthalmologic evaluation was performed that revealed bilateral midperiphery pigmentary mottling. …”
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The landscape of rare mitochondrial DNA variants in sudden cardiac death: A potential role for ATP synthase by Elena Luppi, Monica De Luise, Carla Bini, Guido Pelletti, Gaia Tioli, Ivana Kurelac, Luisa Iommarini, Susi Pelotti, Giuseppe Gasparre

“…Sudden cardiac death (SCD) is a major health concern, which can be the sign of a latent mitochondrial disease. However, mitochondrial DNA (mtDNA) contribution is largely unexplored in SCD at population level. …”
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Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome by Kyriaki Papadopoulou-Legbelou, Maria Ntoumpara, Maria Kavga, Eleni P. Kotanidou, Ioannis Papoulidis, Assimina Galli-Tsinopoulou, Maria Fotoulaki

“…Dilated cardiomyopathy with ataxia syndrome is a rare mitochondrial disease caused by autosomal recessive mutations in the DNAJC19 gene. …”
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Mitochondrial Disorder Aggravated by Metoprolol by Cheryl Samuels, Mary Kay Koenig, Mariana Hernandez, Aravind Yadav, Ricardo A. Mosquera

“…In patients with mitochondrial disease, these effects can be amplified. Previous case reports have been published in the adult population; however, their impact in pediatric patients has not been reported. …”
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Schizophrenia-Like Psychotic Symptoms Associated to Leigh Syndrome by F. Jaballah, R. Ben Soussia Nouira, S. Mallouli, H. Boussaid, S. Younes, L. Zarrouk, S. Younes

“…Leigh syndrome (LS) is a mitochondrial disease characterized by subacute necrotizing encephalomyelopathy with an estimated incidence of 1:40,000 births. …”
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Prenatal Counseling and Diagnosis of COX20 Gene-Related Mitochondrial Complex IV Deficiency: A Case Report and Literature Review by Su J, Zeng L, Chen H, Tong J, Chen Y, Huang L, Deng L, Huang Y

“…Moreover, this report delineated the process of prenatal counseling and diagnostic testing that was undertaken for the subsequent pregnancy of the patient’s mother.Conclusion: The presence of ataxia, cognitive impairment, and peripheral neuropathy in children should prompt consideration of COX20-related mitochondrial disease. Utilizing WES is beneficial for identifying COX20 mutations, and offering prenatal counseling and diagnostic testing to mothers of affected children can reduce the birth rate of children with such mitochondrial diseases.Keywords: COX20, complex IV deficiency, prenatal counseling, prenatal diagnosis…”
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Study of the effect of the introduction of mitochondrial import determinants into the gRNA structure on the activity of the gRNA/SpCas9 complex in vitro by E. G. Zakirova, Y. V. Vyatkin, N. A. Verechshagina, V. V. Muzyka, I. O. Mazunin, K. E. Orishchenko

“…The clinical symptoms of mitochondrial diseases and the degree of their manifestation directly depend on the number of mutant mtDNA molecules in the cell. …”
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Proximal Myopathy due to m.5835G>A Mutation in Mitochondrial MT-TY Gene by C. Simoncini, V. Montano, G. Alì, R. Costa, G. Siciliano, M. Mancuso

“…Mitochondrial (mt) tRNA (MTT) gene mutations are an important cause of mitochondrial diseases and are associated with a wide range of clinical presentations. …”
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