Review
Cell Biology
Cornelis J. F. van Noorden, Vashendriya V. V. Hira, Amber J. van Dijck, Metka Novak, Barbara Breznik, Remco J. Molenaar
Summary: Cancer cells in primary brain tumors, especially glioblastoma, utilize different pathways for ATP production, leading to varying levels of ROS generation. Glioblastoma stem cells in hypoxic niches mainly rely on oxidative phosphorylation for ATP and ROS production, while differentiated cells primarily use glycolysis. Therapeutic inhibition of both glycolysis and OXPHOS is not effective due to unwanted side effects and inhibition of the anti-cancer effects of ROS. Targeting GSCs by disrupting their hypoxic niches to induce differentiation is suggested to enhance their sensitivity to radiotherapy and chemotherapy.
Article
Oncology
Ali S. Haider, Chibawanye I. Ene, Paolo Palmisciano, Maryam Haider, Ganesh Rao, Leomar Y. Ballester, Gregory N. Fuller
Summary: IDH mutations play a crucial role in glioma classification, with specific substitutions in IDH1 and IDH2 genes. We present a case of diffuse astrocytoma progressing to secondary glioblastoma with concurrent IDH1/IDH2 mutations. Although the occurrence of simultaneous IDH1/IDH2 mutations is rare, further studies are needed to determine their impact on prognosis and response to targeted therapies.
FRONTIERS IN ONCOLOGY
(2023)
Editorial Material
Multidisciplinary Sciences
Ran Elkon, Reuven Agami
Summary: Basic design principles that protect enhancer networks against the harmful effects of genetic mutations have been elucidated.
Article
Biochemistry & Molecular Biology
E. Vignesh Balaji, Sairaj Satarker, B. Harish Kumar, Samyak Pandey, Sumit Raosaheb Birangal, Usha Y. Nayak, K. Sreedhara Ranganath Pai
Summary: This study aimed to identify novel molecules that could simultaneously inhibit IDH1 and IDH2 for the management of glioblastoma and other cancers. Through molecular docking, simulations, and molecular dynamics analysis, four potential compounds were identified. These compounds showed maximum interaction with crucial amino acids in IDH1 and IDH2 and could potentially combat glioblastoma. However, further in vitro and in vivo studies are needed to validate the findings of this study.
JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS
(2023)
Article
Medicine, General & Internal
Pau Montesinos, Christian Recher, Susana Vives, Ewa Zarzycka, Jianxiang Wang, Giambattista Bertani, Michael Heuser, Rodrigo T. Calado, Andre C. Schuh, Su-Peng Yeh, Scott R. Daigle, Jianan Hui, Shuchi S. Pandya, Diego A. Gianolio, Stephane de Botton, Hartmut Dohner
Summary: This study demonstrated that the combination therapy of oral ivosidenib and azacitidine showed better event-free survival and longer overall survival in patients with newly diagnosed IDH1-mutated acute myeloid leukemia.
NEW ENGLAND JOURNAL OF MEDICINE
(2022)
Review
Cell Biology
You-Wei Wang, Nan Hu, Xiao-Hong Li
Summary: Revealing the mechanisms of neural development and neural diseases is a challenging task in life science. Brain organoids derived from pluripotent stem cells can mimic the development, function, and signal generation of human brains, providing a unique advantage for studying neurology. Single-cell RNA sequencing and multielectrode array analysis have shown the similarity between brain organoids and the immature human brain at early developmental stages.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Editorial Material
Multidisciplinary Sciences
Maggie P. Lauria Sneideman, Victoria H. Meller
Summary: A protein that upregulates gene expression of the X chromosome has been discovered in male mosquitoes, which is crucial for equalizing gene expression between sexes in organisms with X and Y chromosomes.
Review
Biochemistry & Molecular Biology
Erik A. Ovrom, Karson A. Mostert, Shivani Khakhkhar, Daniel P. McKee, Padao Yang, Yeng F. Her
Summary: This narrative review provides an overview of the current understanding of the genetic and epigenetic contributions to the development of fibromyalgia (FM). While no single gene has been identified as the cause of FM, this study suggests that certain genetic polymorphisms involved in various pathways may influence susceptibility to FM and the severity of its symptoms. Additionally, epigenetic changes at the DNA level and the impact of microRNAs on protein expression are also implicated in the development and worsening of FM-associated symptoms.
Article
Chemistry, Physical
Ryan A. Herold, Raphael Reinbold, Clare F. Megarity, Martine Abboud, Christopher J. Schofield, Fraser A. Armstrong
Summary: This study demonstrates how human isocitrate dehydrogenase (IDH1) and its cancer-associated variant (IDH1 R132H) can be rendered electroactive by coconfining with a NADP(H) recycling enzyme in nanopores formed within an electrode. This enables real-time monitoring of IDH activity and redox landscape, mimicking the accumulation of the oncometabolite 2-hydroxyglutarate in the presence of the R132H variant. The technique also allows for time-resolved measurements of drug binding and dissociation kinetics.
JOURNAL OF PHYSICAL CHEMISTRY LETTERS
(2021)
Article
Endocrinology & Metabolism
Peng Cheng, Kun Chen, Shu Zhang, Ke-Tao Mu, Shuang Liang, Ying Zhang
Summary: The study identified that mutations in IDH1 and ERC2 genes are associated with the development of Maffucci's syndrome. The IDH1 R132C mutation promotes chondrocyte proliferation, while the ERC2 L309I mutation enhances angiogenesis. The combination of mutations in IDH1 and ERC2 contributes to the pathogenesis of Maffucci's syndrome and may lead to further research in this field.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Lukasz Ustianowski, Jakub Udzik, Joanna Szostak, Anna Goracy, Klaudia Ustianowska, Andrzej Pawlik
Summary: This narrative review discusses the role of genetic and epigenetic factors in the pathogenesis of gestational diabetes mellitus (GDM) and explores the risk factors of GDM, including obesity, advanced maternal age, and polycystic ovary syndrome.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Biochemistry & Molecular Biology
Eva Giralt-Steinhauer, Joan Jimenez-Balado, Isabel Fernandez-Perez, Lucia Rey Alvarez, Ana Rodriguez-Campello, Angel Ois, Elisa Cuadrado-Godia, Jordi Jimenez-Conde, Jaume Roquer
Summary: This review summarizes the advances in genetics and epigenetics of intracerebral hemorrhage (ICH), shedding light on the understanding of ICH pathophysiology and the potential for developing therapeutic strategies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Biochemistry & Molecular Biology
Mark L. Sowers, Lawrence C. Sowers
Summary: Glioblastoma is a deadly brain tumor with poor prognosis. Current research focuses on the dependence of glioblastoma on exogenous methionine as a potential therapeutic target. However, methionine depletion may have complex and potentially undesirable effects, requiring further study.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Medicine, General & Internal
D. Pellerin, M. C. Danzi, C. Wilke, M. Renaud, S. Fazal, M. -J Dicaire, C. K. Scriba, C. Ashton, C. Yanick, D. Beijer, A. Rebelo, C. Rocca, Z. Jaunmuktane, J. A. Sonnen, R. Lariviere, D. Genis, L. Molina Porcel, K. Choquet, R. Sakalla, S. Provost, R. Robertson, X. Allard-Chamard, M. Tetreault, S. J. Reiling, S. Nagy, V Nishadham, M. Purushottam, S. Vengalil, M. Bardhan, A. Nalini, Z. Chen, J. Mathieu, R. Massie, C. H. Chalk, A. -L Lafontaine, F. Evoy, M. -F Rioux, J. Ragoussis, K. M. Boycott, M. -P Dube, A. Duquette, H. Houlden, G. Ravenscroft, N. G. Laing, P. J. Lamont, M. A. Saporta, R. Schuele, L. Schoels, R. La Piana, M. Synofzik, S. Zuchner, B. Brais
Summary: A repeat expansion in the FGF14 gene was found to be associated with late-onset cerebellar ataxias (LOCAs) in French Canadian and German populations as well as in Australian and Indian patients. This discovery provides important insights for further research and diagnosis of LOCAs.
NEW ENGLAND JOURNAL OF MEDICINE
(2023)
Review
Biochemistry & Molecular Biology
Yi Ching Esther Wan, Kui Ming Chan
Summary: Oncohistones have become a new focus in cancer epigenetics research, with recent studies uncovering thousands of histone mutations in cancer. Unlike previously identified oncohistones, the newly discovered mutations are located within the histone fold domain and impact gene expression through different mechanisms. Recent characterization of selected H2B has highlighted previously unappreciated roles of oncohistones in nucleosome stability, chromatin accessibility, and chromatin remodeling.