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)
Review
Pharmacology & Pharmacy
Nilima Pradhan, Charan Singh, Arti Singh
Summary: Coenzyme Q10 is a lipid molecule with electron transport and antioxidant functions, beneficial for treating mitochondrial and neurodegenerative diseases. In clinical practice, CoQ10 is used for various brain disorders including Alzheimer's disease and Parkinson's disease.
NAUNYN-SCHMIEDEBERGS ARCHIVES OF PHARMACOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Nicola Rizzardi, Irene Liparulo, Giorgia Antonelli, Francesca Orsini, Antonella Riva, Christian Bergamini, Romana Fato
Summary: This study investigated the bioenergetic and antioxidant effects of a CoQ10 phytosome formulation on I407 and H9c2 cells. It examined the cellular and mitochondrial content of CoQ10, its redox state, and various bioenergetic parameters, as well as the impact of CoQ10 on oxidative stress and membrane lipid peroxidation. The study also highlighted the importance of intestinal absorption for the oral administration of Coenzyme Q10 formulations.
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.
Article
Biotechnology & Applied Microbiology
Weiwei Zou, Qixin Chen, Jesse Slone, Li Yang, Xiaoting Lou, Jiajie Diao, Taosheng Huang
Summary: SLC25A46 mutations lead to mitochondrial respiratory dysfunction, possibly due to damaged mitochondrial cristae. This study used live-cell nanoscope imaging to observe the structure and behavior, providing a practical evaluation method for the pathogenesis of mitochondrial morphological abnormalities.
JOURNAL OF NANOBIOTECHNOLOGY
(2021)
Article
Neurosciences
Fan Hu, Hongbing Nie, Renxu Xu, Xinyong Cai, Liang Shao, Ping Zhang
Summary: This research aimed to investigate the effect and mechanism of vinpocetine (VIN) and coenzyme Q10 (CoQ10) combination on cognitive impairment induced by ionizing radiation (IR). The results showed that the combination of VIN and CoQ10 improved cognitive dysfunction, protected against neuron damage and mitochondrial damage, enhanced mitophagy, and alleviated oxidative stress injury.
Article
Medicine, Research & Experimental
Mary A. Zimmerman, Mia Hall, Qi Qi, Suresh L. Mehta, Guisheng Chen, P. Andy Li
Summary: The study showed that Coenzyme Q10 may protect against glutamate-induced excitotoxicity by stimulating mitochondrial biogenesis, as indicated by increased expression of related proteins and enhanced mitochondrial generation.
EXPERIMENTAL AND THERAPEUTIC MEDICINE
(2021)
Review
Medicine, General & Internal
Thomas Klopstock, Claudia Priglinger, Ali Yilmaz, Cornelia Kornblum, Felix Distelmaier, Holger Prokisch
Summary: Mitochondrial disorders are highly heterogeneous with a variety of clinical manifestations. A correct diagnosis is crucial for genetic counseling and personalized treatment.
DEUTSCHES ARZTEBLATT INTERNATIONAL
(2021)
Review
Biochemistry & Molecular Biology
Chary Lopez-Pedrera, Jose Manuel Villalba, Alejandra Ma Patino-Trives, Maria Luque-Tevar, Nuria Barbarroja, Ma angeles Aguirre, Alejandro Escudero-Contreras, Carlos Perez-Sanchez
Summary: CoQ(10) and its analogs show beneficial effects in autoimmune diseases such as antiphospholipid syndrome and systemic lupus erythematosus, making them potential therapeutic approaches for immune-mediated diseases.
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.
Review
Biochemistry & Molecular Biology
Felix Javier Jimenez-Jimenez, Hortensia Alonso-Navarro, Elena Garcia-Martin, Jose A. G. Agundez
Summary: Coenzyme Q(10) has been studied for its potential therapeutic effects in Alzheimer's disease and other neurodegenerative diseases. While AD patients have similar levels of CoQ(10) in their blood compared to controls, experimental models suggest that CoQ(10) may have neuroprotective effects. Further research is needed to determine the therapeutic role of CoQ(10) in AD and cognitive decline.
Article
Biochemistry & Molecular Biology
Cheng Schwank-Xu, Elisabete Forsberg, Magnus Bentinger, Allan Zhao, Ishrath Ansurudeen, Gustav Dallner, Sergiu-Bogdan Catrina, Kerstin Brismar, Michael Tekle
Summary: The study showed that carnosine enhances CoQ gene expression and increases hepatic CoQ biosynthesis in db/db mice. Co-administration of carnosine and CoQ improves mitochondrial function, reduces ROS formation, and lowers signs of oxidative stress in the liver of diabetic mice.
Article
Cell Biology
Jan Aaseth, Jan Alexander, Urban Alehagen
Summary: Coenzyme Q(10) is essential for mitochondrial function and as an antioxidant. Deficiency can result from genetic issues or aging, with some medications also inhibiting its synthesis. High doses may have positive effects on mitochondrial deficiency syndrome and aging symptoms, but further research is needed.
MECHANISMS OF AGEING AND DEVELOPMENT
(2021)
Article
Cell Biology
Yu Ruan, Jiaqiao Hu, Yaping Che, Yanyan Liu, Zhenhuan Luo, Jin Cheng, Qi Han, He He, Qinghua Zhou
Summary: Mitochondrial dysfunction is a major factor in the development of neurological disorders. Mutations in CHCHD2 and CHCHD10, which encode proteins in the mitochondrial CHCH domain family, are associated with Parkinson's disease and amyotrophic lateral sclerosis/frontotemporal dementia. CHCHD2 and CHCHD10 interact with OMA1 to inhibit its activity, suppressing mitochondrial stress response and fusion. During mitochondria stress, CHCHD2 and CHCHD10 translocate to the cytosol and interact with eIF2a, reducing overactivation of the stress response. Knockdown of CHCHD2 and CHCHD10 leads to mitochondrial stress response, which is amplified by CCCP treatment.
CELL DEATH & DISEASE
(2022)
Article
Medicine, Research & Experimental
Mohsen Sheykhhasan, Razieh Amini, Sara Soleimani Asl, Massoud Saidijam, Seyed Mahmoud Hashemi, Rezvan Najafi
Summary: This study investigated the effects of delivering CoQ10 by exosomes derived from adipose-derived stem cells on memory and cognition in a rat model of AD. Results showed that Exo+CoQ10 significantly improved memory impairment and increased BDNF and SOX2 expression compared to CoQ10 and Exo groups alone.
BIOMEDICINE & PHARMACOTHERAPY
(2022)
Editorial Material
Oncology
Marta Gonzalez-Pombo, Marta Ordonez-Carmona, Eloy Rivas Infante
HEMATOLOGY TRANSFUSION AND CELL THERAPY
(2023)
Review
Biochemistry & Molecular Biology
Juan M. Suarez-Rivero, Carmen J. Pastor-Maldonado, Suleva Povea-Cabello, Monica Alvarez-Cordoba, Irene Villalon-Garcia, Marta Talaveron-Rey, Alejandra Suarez-Carrillo, Manuel Munuera-Cabeza, Diana Reche-Lopez, Paula Cilleros-Holgado, Rocio Pinero-Perez, Jose A. Sanchez-Alcazar
Summary: Mitochondrial dysfunction is a common feature in many diseases, and new therapeutic approaches such as activating UPRmt are being explored. UPRmt activation has shown potential benefits in neurodegenerative diseases, cardiopathies, and mitochondrial diseases, but overactivation could lead to undesired side effects.
Article
Biochemistry & Molecular Biology
Lein N. H. Dofash, Gavin Monahan, Emilia Servian-Morilla, Eloy Rivas, Fathimath Faiz, Patricia Sullivan, Emily Oates, Joshua Clayton, Rhonda L. Taylor, Mark R. Davis, Traude Beilharz, Nigel G. Laing, Macarena Cabrera-Serrano, Gianina Ravenscroft
Summary: Nemaline myopathy 8 (NEM8) is a severe autosomal recessive disorder caused by variants in the KLHL40 gene. This study reports a case of a 26-year-old man with mild NEM8, characterized by hypotonia, fractures, and contractures. Genetic analysis identified compound heterozygous variants in KLHL40, including a truncating deletion and a likely pathogenic variant in the 3' UTR. Functional analysis revealed that the 3' UTR variant induced aberrant splicing and decreased expression of KLHL40 mRNA and protein. This study highlights the importance of considering abnormal 3' UTR splicing in variant curation for Mendelian diseases.
HUMAN MOLECULAR GENETICS
(2023)
Article
Multidisciplinary Sciences
Alba Vilchez-Acosta, Yasmina Manso, Adrian Cardenas, Alba Elias-Tersa, Magdalena Martinez-Losa, Marta Pascual, Manuel Alvarez-Dolado, Angus C. Nairn, Victor Borrell, Eduardo Soriano
Summary: The extracellular protein Reelin, derived from both CR cells and GABAergic interneurons, plays a crucial role in regulating the migration and positioning of cortical neurons during development. Disruptions in Reelin can lead to developmental disorders and neuropsychiatric disorders.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Clinical Neurology
Ernesto Garcia-Roldan, Eloy Rivas-Infante, Manuel Medina-Rodriguez, Jose Enrique Arriola-Infante, Silvia Rodrigo-Herrero, Carmen Paradas, Alberto Rabano-Gutierrez, Emilio Franco-Macias
Summary: This article describes a case of a 37-year-old male patient with rapidly progressive decline, motor symptoms, and behavioral changes. Laboratory and imaging findings were normal, but autopsy revealed severe frontotemporal atrophy and specific basophilic inclusions consistent with BIBD.
Review
Biochemistry & Molecular Biology
Paula Cilleros-Holgado, David Gomez-Fernandez, Rocio Pinero-Perez, Diana Reche-Lopez, Monica Alvarez-Cordoba, Manuel Munuera-Cabeza, Marta Talaveron-Rey, Suleva Povea-Cabello, Alejandra Suarez-Carrillo, Ana Romero-Gonzalez, Juan Miguel Suarez-Rivero, Jose Manuel Romero-Dominguez, Jose Antonio Sanchez-Alcazar
Summary: Mitochondrial dysfunction plays a crucial role in various diseases, but effective treatments for mitochondrial diseases are still lacking. Therefore, researchers are exploring new therapeutic approaches, such as modulating the mitochondrial unfolded protein response (mtUPR). Activation of mtUPR can promote cell homeostasis and improve lifespan and disease conditions in biological models of mitochondrial dysfunction. However, mtUPR activation may also promote tumor progression and lead to undesirable side effects, such as increased heteroplasmy of mitochondrial DNA mutations.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Alba Segarra-Casas, Cristina Dominguez-Gonzalez, Aurelio Hernandez-Lain, Maria Teresa Sanchez-Calvin, Ana Camacho, Eloy Rivas, Andrea Campo-Barasoain, Marcos Madruga, Carlos Ortez, Daniel Natera-de Benito, Andres Nascimento, Anna Codina, Maria Jose Rodriguez, Pia Gallano, Lidia Gonzalez-Quereda
Summary: In patients with suspected DMD/BMD who remain genetically undiagnosed after routine genetic testing, mRNA analysis of the DMD gene identified alterations in mRNA level, including deep intronic variants and chromosomal rearrangement, as well as exon skipping events of unclear pathogenicity. These findings highlight the value of mRNA analysis in reaching a precise genetic diagnosis for patients with clinical and anatomopathological suspicion of dystrophinopathy that cannot be diagnosed through routine genetic testing.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Neuroimaging
Joaquin Gonzalez Fuentes, Sandra Cebada-Sanchez, Maria del Mar Arroyo-Jimenez, Monica Munoz-Lopez, Eloy Rivas-Infante, Guillermo Lozano, Francisco Mansilla, Francisca Cortes, Ricardo Insausti, Pilar Marcos
Summary: This study provides a protocol to identify hippocampal formation (HF) landmarks on MRI images and validates them through histological analysis. After histological validation, the longitudinal extent of the HF and the distances between landmarks were calculated. There were no significant differences in the total length or between landmarks.
BRAIN IMAGING AND BEHAVIOR
(2023)
Article
Genetics & Heredity
Ines B. Santos, Alan Wainman, Juan Garrido-Maraver, Vanessa Pires, Maria Giovanna Riparbelli, Levente Kovacs, Giuliano Callaini, David M. Glover, alvaro A. Tavares
Summary: This study reveals the essential role of the Mob4 gene in male fertility in Drosophila melanogaster. Mob4 is required for proper axonemal structure and is necessary for spermatid individualization and the presence of mature sperm in the seminal vesicles. The findings suggest that Mob4 is evolutionarily and functionally conserved and contributes to the regulation of the microtubule- and actin-cytoskeleton during spermatogenesis through the STRIPAK complex.
Review
Biochemistry & Molecular Biology
Beatriz Castejon-Vega, Mario D. D. Cordero, Alberto Sanz
Summary: In the past, mtROS were seen as byproducts of cellular metabolism and drivers of ageing and age-related diseases. Now, we know that mtROS serve as important cellular messengers, playing a role in maintaining cellular homeostasis and influencing cellular differentiation, proliferation, and survival. However, dysregulated mtROS signaling can contribute to degenerative diseases. This review focuses on the signaling pathways involving mtROS and their role in ageing.
Review
Biochemistry & Molecular Biology
Juan M. M. Suarez-Rivero, Juan Lopez-Perez, Ines Muela-Zarzuela, Carmen Pastor-Maldonado, Paula Cilleros-Holgado, David Gomez-Fernandez, Monica Alvarez-Cordoba, Manuel Munuera-Cabeza, Marta Talaveron-Rey, Suleva Povea-Cabello, Alejandra Suarez-Carrillo, Rocio Pinero-Perez, Diana Reche-Lopez, Jose M. Romero-Dominguez, Jose Antonio Sanchez-Alcazar
Summary: Neurodegenerative diseases involve the progressive loss of neurons and other components of the nervous system, with limited treatment options available. Mitochondrial dysfunction is commonly observed in these diseases and is believed to play a role in their development. Recent research has identified certain groups of antibiotics with potential therapeutic effects beyond their antimicrobial activity, including anti-inflammatory and mitochondrial-enhancing properties. This review discusses the controversial use of antibiotics as potential therapies for neurodegenerative diseases.
Article
Clinical Neurology
Fabiola Mavillard, Emilia Servian-Morilla, Lein Dofash, Inigo Rojas-Marcos, Chiara Folland, Gavin Monahan, Gerardo Gutierrez-Gutierrez, Eloy Rivas, Aurelio Hernandez-Lain, Amador Valladares, Gloria Cantero, Jose M. Morales, Nigel G. Laing, Carmen Paradas, Gianina Ravenscroft, Macarena Cabrera-Serrano
Summary: The extracellular matrix (ECM) plays a vital role in the development and maintenance of skeletal muscle, and dysfunction of ECM elements is associated with several muscle diseases. MAMDC2 is a protein related to ECM and has been studied for its role in cell proliferation in certain cancers. However, its involvement in skeletal muscle physiology has not been previously investigated.
Article
Biochemistry & Molecular Biology
Alejandra Suarez-Carrillo, Monica Alvarez-Cordoba, Ana Romero-Gonzalez, Marta Talaveron-Rey, Suleva Povea-Cabello, Paula Cilleros-Holgado, Rocio Pinero-Perez, Diana Reche-Lopez, David Gomez-Fernandez, Jose Manuel Romero-Dominguez, Manuel Munuera-Cabeza, Antonio Diaz, Susana Gonzalez-Granero, Jose Manuel Garcia-Verdugo, Jose A. Sanchez-Alcazar
Summary: In this study, autophagic defects and secondary pathological consequences were demonstrated in cellular models derived from patients with WDR45 mutations in beta-propeller protein-associated neurodegeneration (BPAN). The study showed that WDR45 mutations impaired autophagy, iron metabolism, and cell bioenergetics. While antioxidants partially improved cellular physiopathology, autophagy and cell bioenergetics remained affected.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Clinical Neurology
Patricia Blanco-Arias, Inmaculada Medina Martinez, Luisa Arrabal Fernandez, Eloy Rivas Infante, Maria Jose Salmeron Fernandez, Catalina Gonzalez Hervas, Pilar Azcon Gonzalez de Aguilar, Lluis Armengol, Susana Pedrinaci, Francesca Perin
Summary: X-linked myopathy with excessive autophagy is a rare inherited disease characterized by abnormal accumulation of autophagic vacuoles in skeletal muscle. We present four male patients with an extremely severe form of this disease, requiring permanent mechanical ventilation from birth and leading to death at early ages. A novel synonymous variant in VMA21 was identified as the cause of this phenotype.
NEUROMUSCULAR DISORDERS
(2023)
Review
Chemistry, Medicinal
Monica Alvarez-Cordoba, Marta Talaveron-Rey, Suleva Povea-Cabello, Paula Cilleros-Holgado, David Gomez-Fernandez, Rocio Pinero-Perez, Diana Reche-Lopez, Manuel Munuera-Cabeza, Alejandra Suarez-Carrillo, Ana Romero-Gonzalez, Jose Manuel Romero-Dominguez, Alejandra Lopez-Cabrera, Jose angel Armengol, Jose Antonio Sanchez-Alcazar
Summary: Neurodegeneration with brain iron accumulation (NBIA) is a group of progressive genetic disorders characterized by the deposition of iron in specific areas of the brain. The most common subtype is pantothenate kinase-associated neurodegeneration (PKAN), for which there are currently no effective treatments. This review discusses the potential of patient-derived cell models in identifying pharmacological compounds for precision medicine in PKAN.