Article
Food Science & Technology
Jun Wang, Xue Tang, Yipin Lu, Yingying Zheng, Fanhang Zeng, Wentao Shi, Peng Zhou
Summary: The study demonstrates that lycopene can alleviate myocardial dysfunction and energy metabolism issues induced by Dityrosine, by improving mitochondrial performance and reducing oxidative stress to enhance heart health.
MOLECULAR NUTRITION & FOOD RESEARCH
(2022)
Review
Biochemistry & Molecular Biology
Vincenzo Zara, Gabriella De Blasi, Alessandra Ferramosca
Summary: This study critically analyzes the assembly process of the cytochrome bc(1) complex in the mitochondrial respiratory chain of yeast. It highlights the complexity of this process, which involves multiple protein subunits and the formation of distinct sub-complexes. The results of this study provide important insights into the mechanism and function of the mitochondrial respiratory chain, and suggest new areas of investigation for future research.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Multidisciplinary Sciences
Thomas D. Jackson, Jordan J. Crameri, Linden Muellner-Wong, Ann E. Frazier, Catherine S. Palmer, Luke E. Formosa, Daniella H. Hock, Kenji M. Fujihara, Tegan Stait, Alice J. Sharpe, David R. Thorburn, Michael T. Ryan, David A. Stroud, Diana Stojanovski
Summary: Sideroflexins (SFXNs) are a family of proteins that have different functions in mitochondrial biology. Loss of SFXN4 leads to complex I assembly defect and it interacts with the core components of the mitochondrial complex I intermediate assembly complex.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Physiology
Aditya Sen, Rachel T. Cox
Summary: This study measured changes in the mitochondrial proteome using three Drosophila mutants and identified protein classes that are unique to each mutant and those shared between them, suggesting that some changes are due to general mitochondrial damage whereas others are gene specific.
FRONTIERS IN PHYSIOLOGY
(2022)
Review
Genetics & Heredity
Sabzali Javadov, Sehwan Jang, Xavier R. Chapa-Dubocq, Zaza Khuchua, Amadou K. S. Camara
Summary: Mitochondria are the main source of ATP for cellular energy demands, and the study of ETC complexes has been focused on solid-state and fluid-state models. Respiratory supercomplexes, according to the solid-state model, play a potential role in maintaining energy balance within the cell.
JOURNAL OF MOLECULAR MEDICINE-JMM
(2021)
Article
Biochemistry & Molecular Biology
Bettina Homberg, Katharina Roempler, Mirjam Wissel, Sylvie Callegari, Markus Deckers
Summary: The respiratory chain in mitochondria consists of individual complexes and large supercomplex structures, which are dynamically regulated to adapt to environmental and metabolic changes. The Rcf protein family plays a crucial role in regulating the assembly and enzyme activity of complex IV within supercomplexes. Members of the Rcf family, such as Rcf1, Rcf2, and Rcf3, have specific functions in the assembly and enzymatic regulation processes.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH
(2021)
Review
Biochemistry & Molecular Biology
Andreas Kohler, Antoni Barrientos, Flavia Fontanesi, Martin Ott
Summary: The mitochondrial respiratory chain is an important system for energy conversion in eukaryotic cells. The organization of respiratory chain complexes into supercomplexes provides advantages for cellular energy conversion, although its universality is still debated. Further research is needed to fully understand the functional significance of these supercomplexes.
Review
Biochemistry & Molecular Biology
Shuting Guan, Li Zhao, Ruiyun Peng
Summary: Mitochondrial supercomplexes, consisting of enzyme complexes and electron carriers, play a crucial role in improving the efficiency of mitochondrial respiratory chain and maintaining cellular metabolism homeostasis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Fabian Dieter, Carsten Esselun, Gunter P. Eckert
Summary: Alpha lipoic acid (ALA) has strong antioxidant properties and can significantly improve mitochondrial dysfunction in a cellular model of Alzheimer's disease (AD). ALA increases the activity of respiratory chain complexes, enhances mitochondrial membrane potential (MMP) and ATP levels, leading to improved mitochondrial function.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Microbiology
Deyamira Matuz-Mares, Oscar Flores-Herrera, Guadalupe Guerra-Sanchez, Lucero Romero-Aguilar, Hector Vazquez-Meza, Genaro Matus-Ortega, Federico Martinez, Juan Pablo Pardo
Summary: This study investigated the organization of mitochondrial respiratory supercomplexes in U. maydis under diverse energy conditions. The supercomplexes were found to have consistent composition and distribution regardless of growth conditions, with no evidence of association between complex II and the alternative NADH dehydrogenases with other respiratory complexes.
Article
Biochemistry & Molecular Biology
Olga Krestinina, Irina Odinokova, Linda Sotnikova, Roman Krestinin, Alena Zvyagina, Yulia Baburina
Summary: The search for new targets for the pathological action of ethanol remains an urgent task of biomedicine. In this study, it was found that astaxanthin can protect liver mitochondria from degenerative changes caused by ethanol and improve mitochondrial functions. Astaxanthin positively influences the activity and expression of proteins of the mitochondrial respiratory chain complexes and ATPase, and has a protective effect on mitochondrial respiration rate and activity.
Article
Biochemistry & Molecular Biology
Michele Brischigliaro, Alfredo Cabrera-Orefice, Mattia Sturlese, Dei M. Elurbe, Elena Frigo, Erika Fernandez-Vizarra, Stefano Moro, Martijn A. Huynen, Susanne Arnold, Carlo Viscomi, Massimo Zeviani
Summary: The composition of cytochrome c oxidase (COX) is functionally conserved between vertebrate and invertebrate species, despite potential differences in individual structures.
Article
Genetics & Heredity
Rocio Rius, Alison G. Compton, Naomi L. Baker, AnneMarie E. Welch, David Coman, Maina P. Kava, Andre E. Minoche, Mark J. Cowley, David R. Thorburn, John Christodoulou
Summary: Genome Sequencing (GS) can effectively identify variants in both nuclear and mitochondrial DNA, offering diagnostic advantages for mitochondrial diseases. With ongoing technical improvements and cost reductions, the routine diagnostic usage of GS is expected to expand in the field of mitochondrial diseases.
Article
Biochemistry & Molecular Biology
Audrey-Ann Dumont, Lauralyne Dumont, Delong Zhou, Hugo Giguere, Chantal Pileggi, Mary-Ellen Harper, Denis P. Blondin, Michelle S. Scott, Mannix Auger-Messier
Summary: The study demonstrates the importance of Srsf3 in maintaining mitochondrial integrity during cardiac development, with Srsf3 deletion leading to severe heart remodeling and cardiomyocyte enlargement.
Review
Biochemistry & Molecular Biology
Daniel Schniertshauer, Susanne Wespel, Joerg Bergemann
Summary: Based on the understanding that many diseases are caused by defects in cellular metabolism, especially in mitochondria, mitochondrial medicine aims to correct these dysfunctions. This form of therapy has gained significance in various fields of human medicine in recent years. It focuses on influencing disturbed cellular energy metabolism and the imbalanced antioxidant system of patients. Mitotropic substances, used as a primary tool, aim to compensate for existing dysfunction. The effectiveness of these substances and accompanying studies are summarized in this article, showing that their actions are based on antioxidative and enhanced mitochondrial respiratory chain properties.
CURRENT ISSUES IN MOLECULAR BIOLOGY
(2023)
Article
Clinical Neurology
Donghwa Yang, Ji-Hoon Na, Se Hee Kim, Heung Dong Kim, Joon Soo Lee, Hoon-Chul Kang
Summary: This study investigated the efficacy and prognosis of long-term, high-dose steroid therapy in children with Lennox-Gastaut syndrome (LGS). The results showed that this treatment option can effectively reduce seizure frequency and achieve complete seizure control in some patients. About half of the patients remained seizure-free after one year of treatment. Although treatment side effects were common, they were mostly mild and transient.
Article
Clinical Neurology
Ara Ko, Nam Suk Sim, Han Som Choi, Donghwa Yang, Se Hee Kim, Joon Soo Lee, Dong Seok Kim, Jeong Ho Lee, Heung Dong Kim, Hoon-Chul Kang
Summary: This study aimed to evaluate the efficacy of the ketogenic diet (KD) in patients with focal cortical dysplasia (FCD) and mTOR pathway dysregulation. The results showed that patients with mTOR pathway mutations had a better response to the KD, although the difference in efficacy compared to patients without mTOR pathway mutations was not statistically significant.
JOURNAL OF CLINICAL NEUROLOGY
(2022)
Editorial Material
Pediatrics
Hyun-Joo Lee, Hae-In Lee, Ji-Hoon Na, Young-Mock Lee
WORLD JOURNAL OF PEDIATRICS
(2022)
Review
Biochemistry & Molecular Biology
Ara Ko, Hye Eun Kwon, Heung Dong Kim
Summary: The ketogenic diet is a high-fat, low-carbohydrate diet that utilizes ketone bodies as an energy source and has shown effectiveness in treating drug-resistant epilepsy. Recent clinical and scientific knowledge supports its use for its anti-seizure efficacy, safety, and tolerability. It is also being explored as a potential treatment option for other neurological disorders.
BIOMEDICAL JOURNAL
(2022)
Article
Clinical Neurology
So Hee Park, In-Ho Jung, Kyung Won Chang, Maeng Keun Oh, Jin Woo Chang, Se Hee Kim, Hoon-Chul Kang, Heung Dong Kim, Won Seok Chang
Summary: This study described the surgical technique of epidural grid monitoring (EDG) in invasive intracranial electroencephalography (iEEG) monitoring and compared it with subdural grid monitoring (SDG). The results showed that although there were no significant differences in craniotomy and electrode insertion between the two groups, the EDG group had fewer postoperative headaches and nausea, and the quality of the electrophysiological signal received through the electrode was comparable to that of SDG. Therefore, EDG has the sufficient potential to replace SDG for monitoring of the lateral surface of the brain.
Article
Nutrition & Dietetics
Myeongseob Lee, Hae In Lee, Kyungchul Song, Han Saem Choi, Junghwan Suh, Se Hee Kim, Hyun Wook Chae, Hoon-Chul Kang, Joon Soo Lee, Heung Dong Kim, Ho-Seong Kim, Ahreum Kwon
Summary: This study aimed to evaluate the dose-dependent association between vitamin D-3 and hypercalciuria/urolithiasis in patients undergoing KDT and dose optimization for renal complications.
FRONTIERS IN NUTRITION
(2022)
Article
Virology
Se Hee Kim, Jee Yeon Baek, Minkyung Han, Myeongjee Lee, Sung Min Lim, Ji Young Lee, Ji-Man Kang, Inkyung Jung, Hoon-Chul Kang, Jong Gyun Ahn
Summary: During the COVID-19 pandemic, the incidence of encephalitis decreased significantly in South Korea, especially among children aged ≤9 years. There were also changes in the clinical outcomes of encephalitis during the pandemic.
JOURNAL OF MEDICAL VIROLOGY
(2023)
Article
Clinical Neurology
Ji-Hoon Na, Young -Mock Lee
Summary: This study investigated the distribution of mutant loads of different mtDNA mutations in patients with Leigh syndrome and found that MT-ATP6 had significantly higher mutant load compared with MT-ND3 and MT-ND5. The mutation loads varied significantly among patients carrying the MT-ATP6, MT-ND3, and MT-ND5 mutations.
PEDIATRIC NEUROLOGY
(2023)
Article
Medicine, General & Internal
Soyoung Ryu, Hoon-Chul Kang, Sung Chul Lee, Suk Ho Byeon, Sung Soo Kim, Christopher Seungkyu Lee
Summary: The purpose of this study was to examine refractive errors, retinal manifestations, and genotype in tuberous sclerosis complex (TSC) patients in a Korean population. A total of 98 TSC patients were enrolled in a retrospective cohort study. The findings showed that TSC1 variant patients were more myopic, while TSC2 variant patients showed association with more extensive involvement of retinal astrocytic hamartoma.
YONSEI MEDICAL JOURNAL
(2023)
Article
Pediatrics
Se Hee Kim, Soon Sung Kwon, Joon Soo Lee, Heung Dong Kim, Seung-Tae Lee, Jong Rak Choi, Saeam Shin, Hoon-Chul Kang
Summary: This study retrospectively reviewed the genetic test results of 2,059 patients with neurodevelopmental disorders (NDD) and found that trio test is an efficient and useful method for diagnosing NDD. The overall diagnostic yield increased by 5.4% with trio test, and numerous pathogenic variants were discovered. Pathogenic de novo variants were frequently detected in CDKL5, ATP1A3, and STXBP1.
FRONTIERS IN PEDIATRICS
(2022)
Article
Genetics & Heredity
Jeehyun Kim, Lip-Yuen Teng, Bilal Shaker, Dokyun Na, Hyun Yong Koh, Soon Sung Kwon, Joon Soo Lee, Heung Dong Kim, Hoon-Chul Kang, Se Hee Kim
Summary: This study found that variants in the DNM1 gene can cause a wide range of epileptic and neurodevelopmental disorders. The phenotypes associated with these variants include typical epileptic spasms and intellectual disability, as well as milder cognitive impairment and focal epilepsy. Different variants also result in varying severity and functional levels.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Clinical Neurology
Ji-Hoon Na, Da Eun Jung, Hee Jung Kang, Hoon-Chul Kang, Heung Dong Kim
Summary: This study evaluates the long-term seizure-free and neurodevelopmental outcomes of stepwise multimodal treatment in patients with Lennox-Gastaut syndrome (LGS), and finds that the active combination of multiple antiseizure medications, dietary therapy, and surgical treatment can provide long-term seizure-free outcomes and significant neurological benefits to patients with LGS.
THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS
(2022)
Article
Clinical Neurology
Se Hee Kim, Han Som Choi, Chung Mo Koo, Bong-Rim Joo, Byung-Joo Park, Hae Kook Lee, Joon Soo Lee, Heung Dong Kim, Hoon-Chul Kang
Summary: This study examined the quality of life (QOL) of pediatric epilepsy patients treated with cannabidiol (CBD), and found that CBD did not improve their QOL. Although CBD showed efficacy in reducing seizures, the lack of improvement in QOL may be attributed to the severe intellectual disabilities present in all patients.
JOURNAL OF CLINICAL NEUROLOGY
(2022)
Article
Clinical Neurology
Ji-Hoon Na, Heung Dong Kim, Young-Mock Lee
Summary: This study retrospectively analyzed the effectiveness of corpus callosotomy in pediatric patients with intractable epilepsy and mitochondrial dysfunction. The results showed that corpus callosotomy was safe and effective in reducing seizure frequency in both groups, with slightly better outcomes observed in the group without mitochondrial dysfunction.
THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS
(2022)