Article
Genetics & Heredity
Orna Staretz-Chacham, Shirly Amar, Shlomo Almashanu, Ben Pode-Shakked, Ann Saada, Ohad Wormser, Eli Hershkovitz
Summary: Multiple acyl-CoA dehydrogenase deficiency (MADD) is a metabolic disorder caused by a deficiency in electron-transfer flavoprotein (ETF) or electron-transfer flavoprotein dehydrogenase (ETFDH), resulting in a defect in fatty acid and amino acid oxidation. There are three phenotypes of the disease with variable severity and age of onset. Phenotype-genotype correlation has been suggested, with early detection through newborn screening and treatment playing a key role in determining disease severity.
Article
Multidisciplinary Sciences
Han Yang, Yafei Li, Yiwei Cao, Wenqing Shi, En Xie, Na Mu, Guijie Du, Yi Shen, Ding Tang, Zhukuan Cheng
Summary: Nitrogen, an important plant nutrient, plays a crucial role in plant development and fertility. Under nitrogen starvation, the ETF beta protein is required for branched chain amino acid catabolism, promoting nitrogen reutilization and supporting the initiation of meiosis.
NATURE COMMUNICATIONS
(2022)
Article
Clinical Neurology
Huiqiu Zhang, Rongjuan Zhao, Jing Ma, Jingfei Zhang, Juan Wang, Xueli Chang, Junhong Guo, Wei Zhang
Summary: This study aimed to investigate the association between riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (RR-MADD) and hyperhomocysteinemia (HHcy). A retrospective review of 13 RR-MADD patients revealed a higher prevalence of HHcy in these patients. Further analysis showed a positive relationship between RR-MADD and HHcy. Additionally, decreased levels of flavin adenine dinucleotide (FAD) were observed in muscle tissues of RR-MADD patients, and 13 disease-associated variants were identified.
Article
Biochemistry & Molecular Biology
Jeerus Sucharitakul, Supacha Buttranon, Thanyaporn Wongnate, Nilanjan Pal Chowdhury, Methinee Prongjit, Wolfgang Buckel, Pimchai Chaiyen
Summary: The interaction between EtfAB and Bcd can significantly decrease the midpoint reduction potential of alpha-FAD, facilitating the transfer of electrons from beta-FADH(-) via alpha-FAD(center dot-) to delta-FAD(center dot-). This interaction also modulates the semiquinone stability of delta-FAD, providing greater stability compared to free Bcd.
Article
Plant Sciences
Paula da Fonseca-Pereira, Phuong Anh Pham, Joao Henrique F. Cavalcanti, Rebeca P. Omena-Garcia, Jessica A. S. Barros, Laise Rosado-Souza, Jose G. Vallarino, Marek Mutwil, Tamar Avin-Wittenberg, Adriano Nunes-Nesi, Alisdair R. Fernie, Wagner L. Araujo
Summary: The alternative pathway of respiration mediated by the ETF/ETFQO complex affects seed germination and development by directly adjusting carbon storage during seed filling. This pathway also impacts seed size and yield, and results in increased levels of certain amino acids during seed development.
Article
Biochemistry & Molecular Biology
Ravi R. Sonani, Artur Blat, Grzegorz Dubin
Summary: This study solved the crystal structures of human ACOX1a, revealing its homodimeric form and the binding of two FAD molecules at the active site. It also found that the substrate binding cleft of ACOX1a is wider compared to other fatty acid oxidation enzymes. Furthermore, the study analyzed the impact of mutations causing dysfunctionality of ACOX1a on its structure and function.
INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES
(2022)
Article
Biochemistry & Molecular Biology
Hayato Nyunoya, Yohei Ishibashi, Makoto Ito, Nozomu Okino
Summary: This study obtained mutants affecting lipid metabolism in Thraustochytrids using random insertional mutagenesis, and identified the importance of ETFQO for survival under sugar starvation in A. limacinum.
BIOSCIENCE BIOTECHNOLOGY AND BIOCHEMISTRY
(2022)
Editorial Material
Clinical Neurology
Brandon B. Holmes, Jeffrey B. Russ, Yvonne W. Wu, Renata C. Gallagher, Dawn Gano
Summary: The newborn male infant was born prematurely at 36 weeks, with low birth weight, but he behaved normally and breastfed well in the first 40 hours of life.
Article
Biochemistry & Molecular Biology
Catarina A. Madeira, Carolina Anselmo, Joao M. Costa, Catia A. Bonito, Ricardo J. Ferreira, Daniel J. . V. A. Santos, Ronald J. Wanders, Joao B. Vicente, Fatima V. Ventura, Paula Leandro
Summary: Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is caused by mutations in the ACADM gene, leading to impaired function and/or structure of MCAD. This study investigates the effects of amino acid substitutions on FAD incorporation and finds that most variants result in reduced FAD content, but some can be rescued by cofactor supplementation, indicating the importance of cofactor availability for MCAD function.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2023)
Article
Biochemistry & Molecular Biology
Bing Wen, Shuyao Tang, Xiaoqing Lv, Duoling Li, Jingwen Xu, Rikke Katrine Jentoft Olsen, Yuying Zhao, Wei Li, Tan Wang, Kai Shao, Dandan Zhao, Chuanzhu Yan
Summary: Fluctuating proximal muscle weakness, exercise intolerance, and dramatic responsiveness to riboflavin treatment are essential clinical features of late-onset MADD patients. Muscle pathology reveals fibers with cracks, atypical ragged red fibers, and decreased SDH activity. Decreased plasma riboflavin levels and a vegetarian diet, as well as masseter weakness, are independent risk factors for muscle weakness recurrence.
HUMAN MOLECULAR GENETICS
(2022)
Article
Multidisciplinary Sciences
Jiao Li, Long Han, Francesca Vallese, Ziqiao Ding, Sylvia K. Choi, Sangjin Hong, Yanmei Luo, Bin Liu, Chun Kit Chan, Emad Tajkhorshid, Jiapeng Zhu, Oliver Clarke, Kai Zhang, Robert Gennis
Summary: Two independent structures of the proton-pumping, respiratory cytochrome bo(3) ubiquinol oxidase have been determined by cryogenic electron microscopy in nanodiscs, showing metal redox centers, redox-active cofactors, water molecules, and ubiquinone-8 in the substrate binding site, with isoprene side chain clamped within a hydrophobic groove in subunit I. Both structures demonstrate dynamics of residue H98(I) facilitating proton transfer from ubiquinol during substrate oxidation.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Endocrinology & Metabolism
Wentao He, Jessica M. Berthiaume, Stephen Previs, Takhar Kasumov, Guo-Fang Zhang
Summary: Our study reveals the presence of novel metabolites resulting from dephosphorylation of Acyl-CoAs and their physiological/pathological relevance remains unclear. By investigating the metabolic changes during ischemia using a rat heart model, we found that phosphorylated metabolites such as ATP and phosphocreatine decreased significantly, while short- and medium-chain acyl-CoAs, as well as propionyl-CoA, increased progressively. Furthermore, dephosphorylation of all detected acyl-CoAs and free CoA occurred during ischemia. These findings suggest that dephosphorylation of acyl-CoAs is an energy-dependent process and may contribute to ischemic injuries to the heart.
Article
Chemistry, Multidisciplinary
Hyunho Kim, Patricia Saura, Maximilian C. C. Poverlein, Ana P. Gamiz-Hernandez, Ville R. I. Kaila
Summary: Complex I is a redox-driven proton pump that powers oxidative phosphorylation. The mechanism of how redox reactions in Complex I trigger proton pumping remains unclear. In this study, we show that proton-coupled electron transfer reactions in Complex I induce long-range conformational changes and establish a proton pathway, which is responsible for proton pumping. Our findings provide insights into the catalytic control of protein conformational changes and ion transport across biological membranes.
JOURNAL OF THE AMERICAN CHEMICAL SOCIETY
(2023)
Review
Biochemistry & Molecular Biology
Helene Lemieux, Pierre U. Blier
Summary: Temperature changes have significant impacts on the adaptations and physiological functions of animals. Understanding the mechanisms of these adaptations is crucial for assessing the survival capacity of ectothermic organisms in the face of global climate change. Mitochondrial oxidative phosphorylation plays a vital role in this process, but further research is needed to explore its complex interactions with other pathways for a comprehensive understanding of aerobic metabolism.
Article
Pediatrics
Tracy L. McGregor, Susan A. Berry, Katrina M. Dipple, Rizwan Hamid
Summary: Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is a fatty acid oxidation disorder where patients cannot break down fats for energy. Pediatricians should provide acute clinical care for patients with MCADD and work with primary metabolic physicians to prevent adverse outcomes for children.
Article
Chemistry, Inorganic & Nuclear
Kuldeep Chand, Cheng-Long Tsai, Hsuan-Ying Chen, Wei-Min Ching, Sung-Po Hsu, James R. Carey, Sodio C. N. Hsu
EUROPEAN JOURNAL OF INORGANIC CHEMISTRY
(2018)
Article
Biochemistry & Molecular Biology
Suphannee Chokchaiwong, Yung-Ting Kuo, Shih-Hsiang Lin, Yi-Ching Hsu, Sung-Po Hsu, Yu-Ting Liu, An-Je Chou, Shu-Huei Kao
FREE RADICAL RESEARCH
(2018)
Article
Biochemistry & Molecular Biology
Wen-Bin Zhong, Yuan-Chin Tsai, Li-Han Chin, Jen-Ho Tseng, Li-Wen Tang, Steve Horng, Yu-Ching Fan, Sung-Po Hsu
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2018)
Article
Biochemistry & Molecular Biology
Sung-Po Hsu, Po-Han Lin, Chih-Ming Chou, Wen-Sen Lee
JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY
(2019)
Article
Biochemistry & Molecular Biology
Pei-Ching Ting, Woan-Ruoh Lee, Yen-Nien Huo, Sung-Po Hsu, Wen-Sen Lee
JOURNAL OF NUTRITIONAL BIOCHEMISTRY
(2019)
Article
Endocrinology & Metabolism
Po-Han Lin, Yen-Ting Tung, Hsin-Yuan Chen, Yi-Fen Chiang, Hui-Chih Hong, Ko-Chieh Huang, Sung-Po Hsu, Tsui-Chin Huang, Shih-Min Hsia
JOURNAL OF PINEAL RESEARCH
(2020)
Article
Biochemistry & Molecular Biology
Hong-Yi Lin, Kuo-Hsing Liao, Chiung-Yuan Ko, Guan-Yuan Chen, Sung-Po Hsu, Chia-Yang Hung, Tsung- Hsu
Summary: The study suggests that 17β-estradiol plays a crucial role in the development of drug resistance in glioblastoma multiforme (GBM) by reducing oxidative stress and inducing drug resistance through NRF2 expression.
FREE RADICAL BIOLOGY AND MEDICINE
(2021)
Article
Biology
Yu-Ching Fan, Kai-Cheng Hsu, Tony-Eight Lin, Dietmar Zechner, Sung-Po Hsu, Yuan-Chin Tsai
Summary: Prostate and pancreatic cancers are leading causes of cancer death in America. Current treatments face challenges, but a novel MLK1 inhibitor has shown promising anti-tumor effects on both cancers.
Article
Biochemistry & Molecular Biology
Yin-Hsun Feng, Sher-Wei Lim, Hong-Yi Lin, Shao-An Wang, Sung-Po Hsu, Tzu-Jen Kao, Chiung-Yuan Ko, Tsung- Hsu
Summary: Allopregnanolone (allo) has the potential to be a treatment for glioblastoma (GBM). It enhances the inhibitory effect of temozolomide (TMZ) on cell survival and proliferation, inhibits cell migration, and induces apoptosis. Allo also decreases the expression of DPYSL3/S100A11 and induces DNA damage to suppress GBM cell survival.
JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY
(2022)
Article
Medicine, General & Internal
Yu-Chih Wu, Sung-Po Hsu, Meng-Chun Hu, Yu-Ting Lan, Edward T. H. Yeh, Feng-Ming Yang
Summary: In this study, a cell permeable PEP-sNASP peptide was generated to ameliorate acute lung injury by reducing inflammation through binding to TRAF6. The PEP-sNASP peptide showed potential as a protein therapy for pulmonary diseases.
FRONTIERS IN MEDICINE
(2022)
Review
Physiology
Sung-Po Hsu, Wen-Sen Lee
CHINESE JOURNAL OF PHYSIOLOGY
(2020)
Article
Multidisciplinary Sciences
Chih-Cheng Chang, Kuo-How Huang, Sung-Po Hsu, Yuan-Chii G. Lee, Yuh-Mou Sue, Shu-Hui Juan
SCIENTIFIC REPORTS
(2019)