Review
Genetics & Heredity
Jieqiong Xie, Jiayang Jiang, Qiwei Guo
Summary: This review discusses the correlation between COQ4 genotypes, particularly the East Asian-specific c.370G > A variant, and the clinical presentations and therapeutic effectiveness of coenzyme Q10 supplementation in Primary Coenzyme Q10 Deficiency-7 (COQ10D7). Different COQ4 variants are associated with different disease severities, onset ages, and responses to coenzyme Q10 therapy. Understanding the genotype-phenotype correlation of COQ10D7 is important for clinical diagnosis, prognosis, and intervention.
FRONTIERS IN GENETICS
(2022)
Review
Biochemistry & Molecular Biology
David Mantle, Lauren Millichap, Jesus Castro-Marrero, Iain P. Hargreaves, Alessandra Napolitano
Summary: Coenzyme Q10 (CoQ10) plays vital roles in all cells, including mitochondria and extra-mitochondrial functions. CoQ10 deficiency is associated with a wide range of disorders and can be classified into primary and secondary types. Oral supplementation of CoQ10 may be effective in treating patients, but early recognition is crucial to prevent irreversible tissue damage. This article reviews clinical studies on the identification of CoQ10 deficiencies and the outcomes of CoQ10 supplementation, resolving the discrepancies in previous review articles. Potential issues and unresolved matters regarding CoQ10 supplementation in primary CoQ10 deficiency are also discussed.
Article
Behavioral Sciences
Chia-Jui Hsu, Wang-Tso Lee
Summary: Coenzyme Q10 (CoQ10) is essential for mitochondrial energy synthesis and extramitochondrial functions. Primary CoQ10 deficiency, caused by interruption of CoQ10 biosynthetic pathway, can be caused by COQ4 variants. The disease shows clinical heterogeneity with a wide range of symptoms and onset ages. Treatment mainly involves oral CoQ10 supplement.
EPILEPSY & BEHAVIOR
(2023)
Review
Cell Biology
Ying Wang, Siegfried Hekimi
Summary: Mutations in CoQ(10) biosynthetic genes can cause primary CoQ(10) deficiency, but there is little evidence for the efficacy of CoQ(10) treatment.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE
(2022)
Review
Food Science & Technology
Amin Gasmi, Geir Bjorklund, Pavan Kumar Mujawdiya, Yuliya Semenova, Salva Piscopo, Massimiliano Peana
Summary: Coenzyme Q(10) is an essential component of the electron transport chain and acts as an antioxidant. Deficiency of CoQ(10) can increase oxidative stress. Oral supplementation with high doses of CoQ(10) has shown beneficial effects on cardiovascular diseases and inflammation related to low CoQ(10) levels and high oxidative stress. It has also been suggested as a potential therapeutic agent for preventing and slowing the progression of metabolic syndrome, type 2 diabetes, neurodegenerative diseases, and male infertility. Further studies and well-designed clinical trials are needed to evaluate the benefits of CoQ(10) for these disorders.
CRITICAL REVIEWS IN FOOD SCIENCE AND NUTRITION
(2022)
Article
Genetics & Heredity
Na Wang, Youmin Zheng, Lingzi Zhang, Xiong Tian, Yicheng Fang, Ming Qi, Juping Du, Shuaishuai Chen, Shiyong Chen, Jun Li, Bo Shen, Lizhen Wang
Summary: A compound heterozygous pathogenic variant of the COQ6 gene was identified as the cause of severe COQ10D6 in two Chinese siblings. These cases expand the genotypic spectrum of COQ10D6 and highlight the heterogeneity and severity of clinical features associated with COQ6 mutations. Early testing for COQ6 mutations is beneficial for disease diagnosis, therapeutic interventions, and disease prevention in future generations for patients with clinical manifestations suggestive of COQ10D6.
FRONTIERS IN GENETICS
(2022)
Review
Biochemistry & Molecular Biology
Francisco M. Gutierrez-Mariscal, Silvia de la Cruz-Ares, Jose D. Torres-Pena, Juan F. Alcala-Diaz, Elena M. Yubero-Serrano, Jose Lopez-Miranda
Summary: CoQ(10) plays a key role in the electron transport chain and acts as an antioxidant, deficiency of which can lead to chronic and age-related diseases, particularly in cardiovascular diseases. Clinical trials have analyzed the effect of CoQ(10) supplementation as a therapeutic approach to improve deficiencies in patients with cardiovascular diseases.
Article
Genetics & Heredity
Jeannette Y. Stallworth, David R. Blair, Anne Slavotinek, Anthony T. Moore, Jacque L. Duncan, Alejandra G. de Alba Campomanes
Summary: This article describes a case of primary coenzyme Q(10) deficiency in a child presenting with early-onset renal failure, retinal dystrophy, and optic atrophy. Genetic testing and whole-exome sequencing revealed variants in the COQ2 gene associated with ocular manifestations.
OPHTHALMIC GENETICS
(2023)
Article
Urology & Nephrology
Stefania Drovandi, Beata S. Lipska-Zietkiewicz, Fatih Ozaltin, Francesco Emma, Bora Gulhan, Olivia Boyer, Agnes Trautmann, Hong Xu, Qian Shen, Jia Rao, Korbinian M. Riedhammer, Uwe Heemann, Julia Hoefele, Sarah L. Stenton, Alexey N. Tsygin, Kar-Hui Ng, Svitlana Fomina, Elisa Benetti, Manon Aurelle, Larisa Prikhodina, Michiel F. Schreuder, Mansoureh Tabatabaeifar, Maciej Jankowski, Sergey Baiko, Jianhua Mao, Chunyue Feng, Cuihua Liu, Shuzhen Sun, Fang Deng, Xiaowen Wang, Stephanie Clave, Malgorzata Stanczyk, Irena Balasz-Chmielewska, Marc Fila, Anne M. Durkan, Tanja Kersnik Levart, Ismail Dursun, Nasrin Esfandiar, Dorothea Haas, Anna Bjerre, Ali Anarat, Marcus R. Benz, Saeed Talebi, Nakysa Hooman, Gema Ariceta, Franz Schaefer
Summary: This study analyzed the effects of Coenzyme Q10 (CoQ(10)) supplementation on patients with primary CoQ(10) deficiency, showing a significant reduction in proteinuria and better preservation of kidney function.
KIDNEY INTERNATIONAL
(2022)
Review
Chemistry, Medicinal
Xinyu Nie, Xinru Dong, Yuge Hu, Fangjun Xu, Cong Hu, Chang Shu
Summary: Female infertility and pregnancy maintenance are influenced by various factors, including oocyte quantity and quality, genital inflammation, endometriosis, and other diseases. Coenzyme Q10 (CoQ10) has been discovered as a promising adjunct in enhancing male reproductive performance due to its ability to reduce oxidative stress, enhance mitochondrial activity, regulate gene expression, and inhibit inflammatory responses. Additionally, CoQ10 has demonstrated properties that can regulate immune balance, act as an antioxidant, and promote glucose and lipid metabolism, making it a potential therapy for various female reproductive disorders.
DRUG DESIGN DEVELOPMENT AND THERAPY
(2023)
Review
Biochemistry & Molecular Biology
David Mantle, Iain Parry Hargreaves
Summary: Mitochondrial dysfunction and oxidative stress play important roles in the pathogenesis of certain endocrine disorders. The vitamin-like substance coenzyme Q10 (CoQ10) may have potential roles in the pathogenesis and treatment of these disorders due to its key functions in mitochondrial function and antioxidant activity. This article reviews the role of CoQ10 deficiency and supplementation in disorders of the thyroid, pancreas, gonads, pituitary, and adrenals, with a particular focus on hyperthyroidism, type II diabetes, male infertility, and polycystic ovary syndrome.
Review
Biochemistry & Molecular Biology
Yoana Rabanal-Ruiz, Emilio Llanos-Gonzalez, Francisco Javier Alcain
Summary: CoQ10, an endogenous antioxidant, plays a crucial role in energy metabolism and antioxidant protection in cardiovascular diseases. Clinical evidence shows that CoQ10 supplementation can reduce oxidative stress, mortality from cardiovascular causes, and improve the clinical outcome of patients.
Article
Biochemistry & Molecular Biology
David Mantle, Nadia Turton, Iain P. Hargreaves
Summary: This article reviews the potential role of supplementary coenzyme Q10 (CoQ10) in mediating the pathogenic mechanism of Lyme disease. Lyme disease patients may experience fatigue and problems affecting the nervous system, cardiovascular system, and joints when antibiotic treatment is delayed or ineffective. It is believed that most of the tissue damage in Lyme disease is caused by the excessive inflammatory response of the host, involving a cycle of mitochondrial dysfunction, oxidative stress, and inflammation.
Review
Biochemistry & Molecular Biology
Juan M. Suarez-Rivero, Carmen J. Pastor-Maldonado, Suleva Povea-Cabello, Monica Alvarez-Cordoba, Irene Villalon-Garcia, Manuel Munuera-Cabeza, Alejandra Suarez-Carrillo, Marta Talaveron-Rey, Jose A. Sanchez-Alcazar
Summary: Coenzyme Q(10) is a key player in mitochondrial function with antioxidant properties, but its analogues with improved characteristics like water solubility and enhanced mitochondrial accumulation may potentially surpass its current role. Recent studies have shown that some of these analogues could outperform CoQ(10) in treating specific diseases.
Article
Chemistry, Physical
Rong Cheng, Tiantian Xu, Chao Wang, Changsheng Gan
Summary: In this study, coenzyme Q10-loaded niosomes were coated with PEG and chitosan at different mass ratios, showing that PEG coating significantly improved the stability and sustained release of CoQ10, while CS modification had adverse effects.
JOURNAL OF MOLECULAR LIQUIDS
(2021)
Article
Clinical Neurology
Marilyn Gros, Andreia M. Nunes, Douglas Daoudlarian, Jonathan Pini, Emanuela Martinuzzi, Susana Barbosa, Monique Ramirez, Angela Puma, Luisa Villa, Michele Cavalli, Nicolae Grecu, Jeremy Garcia, Gabriele Siciliano, Guilhem Sole, Raul Juntas-Morales, Peter L. Jones, Takako Jones, Nicolas Glaichenhaus, Sabrina Sacconi
Summary: The study identified IL-6 as a potential serum biomarker of FSHD severity in a large cohort of FSHD1 adult patients. Different levels of IL-6 were observed in patients with different disease severity, and IL-6 levels correlated positively with disease severity and DUX4 expression.
JOURNAL OF NEUROMUSCULAR DISEASES
(2022)
Article
Clinical Neurology
Celine Tard, Emmanuelle Salort-Campana, Maud Michaud, Marco Spinazzi, Aleksandra Nadaj Pakleza, Helene Durr, Francoise Bouhour, Claire Lefeuvre, Romain Thomas, Azzeddine Arrassi, Nadjib Taouagh, Guilhem Sole, Pascal Laforet
Summary: This French study shows that even a few months of interruption in ERT can worsen the motor and respiratory function of patients with Pompe disease.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Article
Biochemistry & Molecular Biology
Richard J. L. F. Lemmers, Patrick J. van der Vliet, David San Leon Granado, Nienke van der Stoep, Henk Buermans, Robin van Schendel, Joost Schimmel, Marianne de Visser, Rudy van Coster, Marc Jeanpierre, Pascal Laforet, Meena Upadhyaya, Baziel van Engelen, Sabrina Sacconi, Rabi Tawil, Nicol C. Voermans, Mark Rogers, Silvere M. van der Maarel
Summary: Facioscapulohumeral muscular dystrophy (FSHD) is a genetic muscle disease that can be diagnosed by analyzing the D4Z4 repeat on chromosome 4, but atypical rearrangement may affect the accuracy of diagnosis. Research shows that some DPED alleles are derived from an ancient founder allele, and the deletion of genetic elements in some DPED alleles may require reassessment of their role in the pathogenesis of the disease.
HUMAN MOLECULAR GENETICS
(2022)
Review
Cell Biology
Sujatha Jagannathan, Jessica C. de Greef, Lawrence J. Hayward, Kyoko Yokomori, Davide Gabellini, Karlien Mul, Sabrina Sacconi, Jamshid Arjomand, June Kinoshita, Scott Q. Harper
Summary: Facioscapulohumeral muscular dystrophy (FSHD) is a common genetic myopathy characterized by progressive muscle wasting. The recent FSHD International Research Congress provided a platform for researchers and clinicians to share the latest advances in understanding the disease mechanisms and discuss therapeutic strategies and clinical outcome measures.
Article
Biochemistry & Molecular Biology
Denis Vecellio Reane, Cristina Cerqua, Sabrina Sacconi, Leonardo Salviati, Eva Trevisson, Anna Raffaello
Summary: Alternative splicing plays a crucial role in skeletal muscle, both during myogenesis and in post-natal life, by regulating the transcripts of contractile proteins, metabolic enzymes, and transcription factors. Aberrations in alternative splicing can lead to pathological conditions. In addition, many skeletal muscle Ca2+ homeostasis genes are also regulated by alternative splicing mechanisms.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Genetics & Heredity
Benoit Sanson, Caroline Stalens, Celine Guien, Luisa Villa, Catherine Eng, Sitraka Rabarimeriarijaona, Rafaelle Bernard, Pascal Cintas, Guilhem Sole, Vincent Tiffreau, Andoni Echaniz-Laguna, Armelle Magot, Raul Juntas Morales, Francois Constant Boyer, Aleksandra Nadaj-Pakleza, Agnes Jacquin-Piques, Christophe Beroud, Sabrina Sacconi, French Fshd Registry Collaboration Group
Summary: The study evaluated the data quality of the French National Registry of FSHD. The results showed that patient and physician answers were largely concordant when addressing quantitative and objective items. However, there was a poor correlation between data provided in the two forms for FSHD-specific signs. The revised data collection forms rely more on patient-reported data to improve efficiency and quality of data collection.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Article
Biochemistry & Molecular Biology
Ricardo Sanchez-Rodriguez, Caterina Tezze, Andrielly H. R. Agnellini, Roberta Angioni, Francisca C. Venegas, Chiara Cioccarelli, Fabio Munari, Nicole Bertoldi, Marcella Canton, Maria Andrea Desbats, Leonardo Salviati, Rosanna Gissi, Alessandra Castegna, Maria Eugenia Soriano, Marco Sandri, Luca Scorrano, Antonella Viola, Barbara Molon
Summary: Macrophages play essential roles in host defense against pathogens, inflammation regulation, and tissue regeneration. OPA1, a mitochondria-shaping protein, is shown to be a key metabolic driver in macrophage activation.
CELL DEATH AND DIFFERENTIATION
(2023)
Article
Biochemistry & Molecular Biology
Vinzent Schulz, Somsuvro Basu, Sven-A Freibert, Holger Webert, Linda Boss, Ulrich Muehlenhoff, Fabien Pierrel, Lars-O Essen, Douglas M. Warui, Squire J. Booker, Oliver Stehling, Roland Lill
Summary: This study identifies new biochemical functions of mitochondrial ferredoxins and provides structural insights into their functional specificity.
NATURE CHEMICAL BIOLOGY
(2023)
Article
Multidisciplinary Sciences
Caterina Marchioretti, Giulia Zanetti, Marco Pirazzini, Gaia Gherardi, Leonardo Nogara, Roberta Andreotti, Paolo Martini, Lorenzo Marcucci, Marta Canato, Samir R. Nath, Emanuela Zuccaro, Mathilde Chivet, Cristina Mammucari, Marco Pacifici, Anna Raffaello, Rosario Rizzuto, Andrea Mattarei, Maria A. Desbats, Leonardo Salviati, Aram Megighian, Gianni Soraru, Elena Pegoraro, Elisa Belluzzi, Assunta Pozzuoli, Carlo Biz, Pietro Ruggieri, Chiara Romualdi, Andrew P. Lieberman, Gopal J. Babu, Marco Sandri, Bert Blaauw, Manuela Basso, Maria Pennuto
Summary: Marchioretti and colleagues demonstrate that there are reversible alterations in gene expression related to muscle contraction and mitochondrial respiration in the skeletal muscle of SBMA mice and patients. These alterations are accompanied by calcium accumulation inside the mitochondria, motor dysfunction, and late changes in muscle structure. The deregulation of expression of genes involved in excitation-contraction coupling (ECC) occurs with sexual maturity and androgen increase in the serum. Surgical castration and AR silencing alleviate the early and late pathological processes, indicating an androgen-dependent nature of these alterations.
NATURE COMMUNICATIONS
(2023)
Article
Biochemistry & Molecular Biology
Mara Doimo, Namrata Chaudhari, Sanna Abrahamsson, Valentin L'Hote, Tran V. H. Nguyen, Andreas Berner, Mama Ndi, Alva Abrahamsson, Rabindra Nath Das, Koit Aasumets, Steffi Goffart, Jaakko L. O. Pohjoismaki, Marcela Davila Lopez, Erik Chorell, Sjoerd Wanrooij
Summary: Mitochondrial DNA (mtDNA) replication stalling is a crucial step in the formation of mtDNA deletions, which are associated with genetic disorders and aging. The mechanisms underlying how replication forks stalling leads to the accumulation of mtDNA deletions are unclear. This study investigates the formation of G-quadruplexes (G4s) in mtDNA and their impact on mtDNA instability. The results demonstrate the transient formation of mtDNA G4s, especially in the major arc, and suggest that replication stalling increases G4 occurrence and unresolved G4s negatively affect mtDNA integrity.
NUCLEIC ACIDS RESEARCH
(2023)
Article
Microbiology
Rodrigo Arias-Cartin, Katayoun Kazemzadeh Ferizhendi, Emmanuel Sechet, Ludovic Pelosi, Corinne Loeuillet, Fabien Pierrel, Frederic Barras, Emmanuelle Bouveret
Summary: This study investigates the biosynthesis of ubiquinone under anaerobic conditions and its role in different anaerobic processes, such as nitrate respiration and pyrimidine synthesis. The findings have important implications for understanding the metabolism and dynamics of facultative anaerobes, including pathogens, in the gut microbiota.
Article
Biochemistry & Molecular Biology
Micol Silic-Benussi, Evgeniya Sharova, Alberto Corradin, Loredana Urso, Vittoria Raimondi, Ilaria Cavallari, Barbara Buldini, Samuela Francescato, Sonia A. Minuzzo, Donna M. D'Agostino, Vincenzo Ciminale
Summary: The combination of everolimus and verapamil has been found to enhance the anti-oxidative and cell death effects on T-ALL cells. This combination therapy also showed significant inhibition of tumor growth in refractory T-ALL, providing a potential treatment option for patients who do not respond to standard chemotherapy.
Article
Cell Biology
Nathalie Sturm, Morgane Roger-Margueritat, Fabien Pierrel, Philippe Lehours, Muriel Genevay, Bertrand Huard
Summary: The study shows that microbiotal component(s) from the ileum and colon induce APRIL expression in eosinophils to mediate plasma-cell survival in the lamina propria. This survival pathway is not active in the duodenum. Eosinophils in the lower intestine play a role in regulating IgA(+) plasma-cell homeostasis, with APRIL being a key factor in this regulation.
JOURNAL OF LEUKOCYTE BIOLOGY
(2023)
Article
Pediatrics
Elena Cacciatori, Sebastiano Aleo, Giulietta Scuvera, Chiara Rigon, Paola Giovanna Marchisio, Matteo Cassina, Donatella Milani
Summary: This study reports two patients with clinical features of Branchio-oto-renal syndrome (BOR), who were found to have a 2.65 Mb 8q13.2-13.3 microdeletion through CNV analysis. This highlights the importance of CNV analysis in diagnosing BOR syndrome when sequencing for BOR genes is negative. Furthermore, the deletion of PRDM14 and NCOA2 genes, which are involved in regulation of fertility, suggests the need for longer follow-up to monitor fertility issues or additional clinical findings.
ITALIAN JOURNAL OF PEDIATRICS
(2022)
Meeting Abstract
Biochemistry & Molecular Biology
Valeria Morbidoni, Elisa Baschiera, Monica Forzan, Valentina Fumini, Dario Seif Ali, Gianpietro Giorgi, Lisa Buson, Maria Andrea Desbats, Matteo Cassina, Maurizio Clementi, Leonardo Salviati, Eva Trevisson
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)