Article
Cell & Tissue Engineering
Tharsini Navaratnarajah, Marlen Bellmann, Annette Seibt, Ruchika Anand, Oezer Degistirici, Roland Meisel, Ertan Mayatepek, Andreas Reichert, Fabian Baertling, Felix Distelmaier
Summary: This study investigated the effects of human mesenchymal stem cells (MSCs) on patients with mitochondrial diseases caused by complex I deficiency. The results showed that co-culturing of complex I-deficient fibroblast with MSCs could lower cellular ROS levels, improve mitochondrial respiration, and normalize the adaptive response. This suggests that MSC-based treatment approaches might be a promising option for patients with mitochondrial DNA-encoded mitochondrial diseases.
STEM CELL RESEARCH & THERAPY
(2022)
Article
Andrology
Fatina W. Dahadhah, Mayyas Saleh Jaweesh, Mazhar Salim Al Zoubi, Manal Issam Abu Alarjah, Mohamad Eid Hammadeh, Houda Amor
Summary: The study aimed to investigate the relationship between polymorphisms in mitochondrial NADH dehydrogenase subunits 3 and 4L (MT-ND3 and MT-ND4L) and male infertility, but found no significant association. However, the presence of rs28358278 genotype in the MT-ND3 gene was reported in the subfertile group, suggesting a possible role in male infertility. Further studies are needed to evaluate these findings.
Article
Biochemistry & Molecular Biology
Mayyas Saleh Jaweesh, Mohamad Eid Hammadeh, Fatina W. Dahadhah, Mazhar Salim Al Zoubi, Houda Amor
Summary: The study revealed a significant association between mutations in the MT-CYB gene and male infertility, with rs527236194, rs28357373, and rs41504845 variants being the most related to subfertility. Further research on larger populations is needed to clarify the exact role of this gene in male infertility development, and functional studies may help elucidate the molecular impact of MT-CYP polymorphisms on mitochondrial function.
MOLECULAR BIOLOGY REPORTS
(2022)
Article
Medicine, Research & Experimental
Jingdian Zhang, Camilla Koolmeister, Jinming Han, Roberta Filograna, Leo Hanke, Monika Adori, Daniel J. Sheward, Sina Teifel, Shreekara Gopalakrishna, Qiuya Shao, Yong Liu, Keying Zhu, Robert A. Harris, Gerald Mcinerney, Ben Murrell, Mike Aoun, Liselotte Baeckdahl, Rikard Holmdahl, Marcin Pekalski, Anna Wedell, Martin Engvall, Anna Wredenberg, Gunilla B. Karlsson Hedestam, Xaquin Castro Dopico, Joanna Rorbach
Summary: This study investigates the impact of pathogenic mutations in mitochondrial tRNA genes on the immune system. The results show that memory T and B cells have lower mutation burdens compared to their antigen-inexperienced naïve counterparts, and this reduction is less pronounced in myeloid lineages. The rapid dilution of the mutations in T and B cells can be induced by antigen receptor-triggered proliferation and is accelerated under metabolic stress conditions. In addition, the pathogenic mutations affect the metabolic remodeling and IFN-gamma production in CD8(+) T cells.
Article
Genetics & Heredity
Valentina Barone, Chiara La Morgia, Leonardo Caporali, Claudio Fiorini, Michele Carbonelli, Laura Ludovica Gramegna, Fiorina Bartiromo, Caterina Tonon, Luca Morandi, Rocco Liguori, Aurelia Petrini, Rachele Brugnano, Rachele Del Sordo, Carla Covarelli, Manrico Morroni, Raffaele Lodi, Valerio Carelli
Summary: This study reports a unique combination of LHON, nephropathy, sensorineural deafness, and subcortical and cerebellar atrophy associated with the m.13513G>A variant.
FRONTIERS IN GENETICS
(2022)
Article
Cell Biology
Veria Vacchiano, Leonardo Caporali, Chiara La Morgia, Michele Carbonelli, Giulia Amore, Ilaria Bartolomei, Maria Luisa Cascavilla, Piero Barboni, Costanza Lamperti, Alessia Catania, Jane W. Chan, Rustum Karanja, Alfredo A. Sadun, Rocco Liguori, Andrea Bianchi, Gioele Gavazzi, Mario Mascalchi, Fabrizio Salvi, Valerio Carelli
Summary: Isolated complex I deficiency can lead to various clinical syndromes such as Leigh syndrome, Leber hereditary optic neuropathy, and mitochondrial encephalomyopathy. This study highlighted the m.3890G>A/MT-ND1 mtDNA pathogenic variant and its impact on disease severity depending on the heteroplasmic loads. The findings suggest a spectrum of disease manifestations from LHON to Leigh-like encephalopathy with distinct MRI features.
Article
Genetics & Heredity
Helene Bruhn, Kristin Samuelsson, Florian A. Schober, Martin Engvall, Nicole Lesko, Rolf Wibom, Inger Nennesmo, Javier Calvo-Garrido, Rayomand Press, Henrik Stranneheim, Christoph Freyer, Anna Wedell, Anna Wredenberg
Summary: A novel MT-ND3 mutation was identified in a patient with adult-onset sensorimotor axonal polyneuropathy, leading to significant reduction in complex I respiratory chain activity and decreased ATP production in muscle tissue. The mutation was found in skeletal muscle but not in cultured myoblasts, suggesting tissue-specific pathogenic effects.
NEUROLOGY-GENETICS
(2021)
Article
Genetics & Heredity
Marius Hippen, Gabor Zsurka, Viktoriya Peeva, Judith Machts, Kati Schwiecker, Grazyna Debska-Vielhaber, Rudolf J. Wiesner, Stefan Vielhaber, Wolfram S. Kunz
Summary: In this study, a novel pathogenic variant in the mitochondrial tRNA for cysteine was identified as a cause of NARP syndrome. It was found that the sequence variant disrupted the stability of the tRNA, leading to oxidative phosphorylation deficiency. The study also observed a cluster of somatic deletions near the variant, indicating a potential mechanism of deletion generation in the mitochondrial genome.
NEUROLOGY-GENETICS
(2022)
Article
Clinical Neurology
Marwa Maalej, Fatma Kammoun, Marwa Kharrat, Wafa Bouchaala, Marwa Ammar, Emna Mkaouar-Rebai, Chahnez Triki, Faiza Fakhfakh
Summary: In this study, we report a patient initially diagnosed with Friedreich's ataxia but later found to have AVED. Genetic analysis revealed mutations in both mitochondrial and nuclear genes, including a novel mutation in the TTPA gene. This is the first report of the coexistence of mutations in both types of genes in AVED.
ACTA NEUROLOGICA BELGICA
(2021)
Review
Biochemistry & Molecular Biology
Jun Feng, Zhaowei Chen, Wei Liang, Zhongping Wei, Guohua Ding
Summary: The kidney, which is a mitochondria-rich organ, is affected by mitochondria-related pathologies. Damage to mitochondrial DNA (mtDNA) plays a role in kidney diseases, including acute kidney injury (AKI) and chronic kidney disease (CKD). MtDNA damage is closely associated with loss of kidney function, and the levels of mtDNA in peripheral serum and urine can reflect kidney injury. Alleviating mtDNA damage can promote mitochondrial function recovery and reduce kidney injury. Therefore, mtDNA damage may serve as a novel biomarker for assessing kidney injury and provide a new therapeutic option for kidney diseases.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Cell Biology
Emilia Baranowska, Katarzyna Niedzwiecka, Chiranjit Panja, Camille Charles, Alain Dautant, Jaroslaw Poznanski, Jean-Paul di Rago, Deborah Tribouillard-Tanvier, Roza Kucharczyk
Summary: The number of mtDNA variants detected in patients with neurodegenerative diseases is increasing, making it difficult to evaluate their functional consequences and pathogenicity. Saccharomyces cerevisiae provides a convenient model to investigate the functional consequences of these variants. Yeast models of certain MT-ATP6 gene variants showed significant defects in growth and ATP production, indicating their pathogenicity, while yeast models of other variants showed mild or no effect on mitochondrial function, suggesting they do not have the potential to compromise human health.
DISEASE MODELS & MECHANISMS
(2023)
Review
Biochemistry & Molecular Biology
Paulina Kozakiewicz, Ludmila Grzybowska-Szatkowska, Marzanna Ciesielka, Jolanta Rzymowska
Summary: Mitochondrial DNA changes can impact the occurrence of chronic diseases and cancer. The relationship between mitochondrial DNA mutations and cancer development is complex and not fully understood. Certain mitochondrial DNA polymorphisms are shared between chronic diseases and cancer.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Oncology
Thierry Soussi
Summary: With the advancement of genotyping technology, a large number of uncommon SNPs have been discovered, but many resources are biased towards European populations. TP53 gene is the most frequently mutated gene in human cancer, and its SNPs must be rigorously evaluated to avoid misclassifications. The recent discovery of numerous benign SNPs within the coding region of TP53 highlights the importance of including populations of different ethnic origins in genetic studies.
Article
Biochemistry & Molecular Biology
Haruna Tani, Kaori Ishikawa, Hiroaki Tamashiro, Emi Ogasawara, Takehiro Yasukawa, Shigeru Matsuda, Akinori Shimizu, Dongchon Kang, Jun-Ichi Hayashi, Fan-Yan Wei, Kazuto Nakada
Summary: This study established a mouse model carrying a pathogenic mutation in the mitochondrial tRNA gene, associated with metabolic syndrome-like symptoms. The mutation led to decreased protein levels and reduced Complex I activity in mitochondria, providing insights into the molecular basis of mutation-mediated mitochondrial disorders.
NUCLEIC ACIDS RESEARCH
(2022)
Article
Medicine, General & Internal
Shaundra M. Newstead, Josef Finsterer
Summary: This case report describes a woman diagnosed with Leigh-like syndrome who presented with a variety of multisystem symptoms, and it was found that both she and her mother carried the m.10191T>C variant in ND3.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2022)
Article
Fisheries
Xiao Zheng, Ling Xu, Maosen Ye, Tianle Gu, Yu-Lin Yao, Long-Bao Lv, Dandan Yu, Yong-Gang Yao
Summary: The study characterized the potential role of tDDIT3 in viral infections, showing a closer genetic affinity between tree shrew and primates, overexpression of tDDIT3 increased the production of HSV-1 and VSV, but the enhanced effect on viral infection was not associated with the three positively selected sites.
DEVELOPMENTAL AND COMPARATIVE IMMUNOLOGY
(2022)
Article
Environmental Sciences
Alberto Gomez-Carballa, Irene Rivero-Calle, Jacobo Pardo-Seco, Jose Gomez-Rial, Carmen Rivero-Velasco, Nuria Rodriguez-Nunez, Gema Barbeito-Castineiras, Hugo Perez-Freixo, Miriam Cebey-Lopez, Ruth Barral-Arca, Carmen Rodriguez-Tenreiro, Ana Dacosta-Urbieta, Xabier Bello, Sara Pischedda, Maria Jose Curras-Tuala, Sandra Viz-Lasheras, Federico Martinon-Torres, Antonio Salas
Summary: This study analyzed the gene expression of immune-related genes in different tissues (nasal, buccal, and blood) from patients with different severities of COVID-19 and healthy controls. The findings suggest that mild and asymptomatic cases exhibit a powerful innate antiviral response in the nasal epithelium, while severe cases lack this response. Severe cases show signs of viral activity and viral dissemination to the lower respiratory tract in the oral mucosa, which may explain the exacerbated innate immune response and impaired adaptive immune response observed at a systemic level. The results also suggest the potential role of the buccal cavity in SARS-CoV-2 infection and dissemination in patients with worse prognosis.
ENVIRONMENTAL RESEARCH
(2022)
Letter
Biology
Ling-Yan Su, Yuan Li, Qianjin Liu, Lijin Jiao, Jing Shen, Lu-Xiu Yang, Ti-Fei Yuan, Yong-Gang Yao
SCIENCE CHINA-LIFE SCIENCES
(2022)
Article
Medicine, General & Internal
Jianxiong Zeng, Xiaochun Xie, Xiao-Li Feng, Ling Xu, Jian-Bao Han, Dandan Yu, Qing-Cui Zou, Qianjin Liu, Xiaohong Li, Guanqin Ma, Ming-Hua Li, Yong-Gang Yao
Summary: The study found that the NLRP3 inflammasome plays a crucial role in the lungs during SARS-CoV-2 infection, and inhibiting this inflammasome can reduce the release of pro-inflammatory cytokines related to COVID-19 in cells and mice. Therefore, targeting the NLRP3 inflammasome could be a promising immune intervention against severe COVID-19 disease.
Editorial Material
Zoology
Yong-Gang Yao, Yun Zhang
ZOOLOGICAL RESEARCH
(2022)
Article
Environmental Sciences
Xabier Bello, Jacobo Pardo-Seco, Alberto Gomez-Carballa, Hansi Weissensteiner, Federico Martinon-Torres, Antonio Salas
Summary: SARS-CoV-2 genomes have been extensively sequenced and stored in public databases, CovidPhy is a web tool that can analyze and interpret these genome sequences.
ENVIRONMENTAL RESEARCH
(2022)
Article
Geriatrics & Gerontology
Xiao Li, Min Xu, Rui Bi, Li-Wen Tan, Yong-Gang Yao, Deng-Feng Zhang
Summary: This study aimed to investigate the role of rare and common variants of growth factors (GFs) in the genetic susceptibility of Alzheimer's disease (AD). The results showed an enrichment of rare missense variants in GF gene-set in AD patients, with the epidermal growth factor (EGF) being the most strongly associated. The common variant rs4698800 of EGF was significantly associated with AD risk, and increased EGF expression was observed in AD brain.
NEUROBIOLOGY OF AGING
(2023)
Article
Environmental Sciences
Narmeen Mallah, Jacobo Pardo-Seco, Luis-Ricardo Lopez-Perez, Juan-Manuel Gonzalez-Perez, Benigno Roson, Maria-Teresa Otero-Barros, Carmen Duran-Parrondo, Victoria Nartallo-Penas, Susana Miras-Carballal, Carmen Rodriguez-Tenreiro, Irene Rivero-Calle, Alberto Gomez-Carballa, Antonio Salas, Federico Martinon-Torres
Summary: Research shows that COVID-19 booster vaccines can significantly increase protection against SARS-CoV-2 infection, especially in older age groups and those with various medical conditions.
ENVIRONMENTAL RESEARCH
(2022)
Article
Neurosciences
Yu Li, Min Xu, Bo-Lin Xiang, Xiao Li, Deng-Feng Zhang, Hui Zhao, Rui Bi, Yong-Gang Yao
Summary: Alzheimer's disease (AD) is a highly heritable age-related neurodegenerative disease. Genetic basis exploration is crucial for understanding the pathogenic mechanisms of AD. This study identified a functional variant rs2289702 in the CTSH gene that is associated with a protective effect against AD. The study also revealed the genetic regulating mechanism of CTSH in the pathogenesis of AD, including its impact on CTSH mRNA expression and phagocytosis of A beta peptides.
NEUROPSYCHOPHARMACOLOGY
(2023)
Review
Geriatrics & Gerontology
Laura Navarro, Alberto Gomez-Carballa, Sara Pischedda, Julian Montoto-Louzao, Sandra Viz-Lasheras, Alba Camino-Mera, Thomas Hinault, Federico Martinon-Torres, Antonio Salas
Summary: This study systematically reviewed the state-of-the-art of neuroscience and cognitive sciences research on music and Alzheimer's disease (AD) and found that music has beneficial effects on patients with neurodegenerative diseases, especially in memory and cognition. Transcriptomic and epigenomic data analysis also revealed connections between music-related genes and AD. These findings provide a new roadmap for genetic research and musical interventions in AD and other neurodegenerative conditions.
FRONTIERS IN AGING NEUROSCIENCE
(2023)
Article
Biochemistry & Molecular Biology
Xiao-Lin Zhuang, Jin-Jin Zhang, Yong Shao, Yaxin Ye, Chun-Yan Chen, Long Zhou, Zheng-bo Wang, Xin Luo, Bing Su, Yong-Gang Yao, David N. Cooper, Ben-Xia Hu, Lu Wang, Xiao-Guang Qi, Jiangwei Lin, Guo-Jie Zhang, Wen Wang, Nengyin Sheng, Dong-Dong Wu
Summary: By conducting large-scale comparative genomic, transcriptomic, and epigenomic analyses, we investigated the evolutionary changes of brain genes from ancestral primates to humans and provided a comprehensive listing of innovative genetic elements. The regulatory sequences associated with brain-expressed genes underwent rapid changes, particularly in the ancestor of the Simiiformes. Comparisons of primate and non-primate brain transcriptomic data revealed that these regulatory sequences may drive the high expression of certain genes in primate brains. Our study also demonstrated the recruitment of the primate-specific brain-biased gene BMP7 to regulate neuronal proliferation in the primate ventricular zone. These findings provide valuable insights into the genetic basis of human brain evolution and inherited diseases.
MOLECULAR BIOLOGY AND EVOLUTION
(2023)
Article
Neurosciences
Hongli Li, Bo-Lin Xiang, Xiao Li, Cong Li, Yu Li, Ying Miao, Guo-Lan Ma, Yu-Hua Ma, Jia-Qi Chen, Qing-Yu Zhang, Long-Bao Lv, Ping Zheng, Rui Bi, Yong-Gang Yao
Summary: Alzheimer's disease is a common neurodegenerative disease in the elderly, and the lack of suitable animal models has been a limitation in its study. Tree shrews, with their closer genetic affinity to primates, have potential as a model for studying aging and Alzheimer's disease. This study found that aged tree shrews exhibited impaired cognitive performance and showed characteristics associated with Alzheimer's disease, such as amyloid-beta accumulation, tau protein phosphorylation, synaptic and neuronal loss, and reactive gliosis.
MOLECULAR NEUROBIOLOGY
(2023)
Article
Biotechnology & Applied Microbiology
Antonio Salas, Irene Rivero-Calle, Federico Martinon-Torres
Summary: Vaccine hesitancy is considered a top global health threat by the WHO. This study investigates the ability of the AI chatbot ChatGPT to generate opinions on vaccine hesitancy by examining its response to prevalent false information, contraindications, and myths about vaccine safety circulating on the internet. The findings suggest that while ChatGPT's default responses may be incomplete, they are generally satisfactory and have the potential to guide users towards scientifically aligned information, though it cannot replace experts or scientific evidence itself.
HUMAN VACCINES & IMMUNOTHERAPEUTICS
(2023)
Article
Pharmacology & Pharmacy
Alberto Gomez-Carballa, Guillermo Albericio, Julian Montoto-Louzao, Patricia Perez, David Astorgano, Irene Rivero-Calle, Federico Martinon-Torres, Mariano Esteban, Antonio Salas, Juan Garcia-Arriaza
Summary: This study investigates the molecular mechanism of COVID-19 vaccines and their effects on the host response to SARS-CoV-2 infection. The findings suggest that one dose of MVA-S provides partial protection while two doses provide full protection against infection. The study also identifies key genes involved in viral control and immune response.
ANTIVIRAL RESEARCH
(2023)
Article
Chemistry, Organic
Xing-Rong Peng, Rong-Can Luo, Hai-Guo Su, Lin Zhou, Xiao-Qian Ran, Ya-Rong Guo, Yong-Gang Yao, Ming-Hua Qiu
Summary: A new subtype of Ganoderma meroterpenoid dimer, (+/-)-Spiroganoapplanin A, was isolated from Ganoderma applanatum. It showed potential against Alzheimer's disease.
ORGANIC CHEMISTRY FRONTIERS
(2022)