Review
Biochemistry & Molecular Biology
Henrike Bruckmueller, Ingolf Cascorbi
Summary: Despite significant efforts, studies on genetic variants in ABC efflux transporters have shown weak associations with drug pharmacokinetics and response. Majority of studies have failed to confirm earlier findings and remain inconsistent. The impact of genetic variants on drug bioavailability is minor, with other factors regulating transporter expression and function being more critical. Overall, these genetic variants are not suitable as predictive biomarkers.
EXPERT OPINION ON DRUG METABOLISM & TOXICOLOGY
(2021)
Review
Clinical Neurology
Xin Zan, Gaohui Yue, Yongli Hao, Xiutian Sima
Summary: The meta-analysis suggests that ABCC2 rs717620 and rs3740066 are risk factors that predict responses to AEDs in epileptic patients.
Review
Biochemistry & Molecular Biology
Latifa Alketbi, Abeer Al-Ali, Iman M. Talaat, Qutayba Hamid, Khuloud Bajbouj
Summary: Colorectal cancer (CRC) is a common malignancy worldwide, ranked fourth in cancer-related deaths. Mutations in oncogenes, tumor suppressor genes, and DNA repair genes contribute to the development of CRC. Chemoresistance is one of the major challenges in CRC treatment, and the overexpression of ATP-binding cassette (ABC) transporters has been identified as a facilitating mechanism for chemoresistance. ABC transporters are involved in lipid transport and homeostasis, which play a crucial role in tumor development and progression. Altered expression of ABCA transporters in CRC is associated with poor prognosis and overall survival. This minireview suggests that ABCA transporters could serve as potential diagnostic and therapeutic targets in CRC.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Anthropology
Grazyna Adler, Izabela Uzar, Amina Valjevac, Emina Kiseljakovic, Emir Mahmutbegovic, Nermin N. Salkic, Mateusz A. Adler, Nevena Mahmutbegovic
Summary: This study assessed the prevalence of CYP3A5 and ABCB1 gene variants in Polish, Belarusian, and Bosnian populations and compared them with other European populations. The results showed that the *3 allele of CYP3A5 was the most common in all three populations, while the distribution of ABCB1 gene variant C was similar.
ANNALS OF HUMAN BIOLOGY
(2022)
Article
Medicine, General & Internal
Yi-Shin Huang, Tien-En Chang, Chin-Lin Perng, Yi-Hsiang Huang
Summary: This study investigated the association between genetic variations in important ABC transporters and susceptibility to DILI, revealing that carriers of the ABCC2 rs717620 T variant may have an increased risk of hyperbilirubinemia and mortality in patients with DILI.
JOURNAL OF THE CHINESE MEDICAL ASSOCIATION
(2021)
Article
Multidisciplinary Sciences
Andrzej Harris, Manuel Wagner, Dijun Du, Stefanie Raschka, Lea-Marie Nentwig, Holger Gohlke, Sander H. J. Smits, Ben F. Luisi, Lutz Schmitt
Summary: Pdr5, a member of the ABC transporter superfamily, plays a crucial role in drug efflux through an ATP-driven conformational cycle. The structural analysis reveals that while half of the transporter remains unchanged throughout the cycle, its partner undergoes changes to support a peristaltic motion for pumping molecules.
NATURE COMMUNICATIONS
(2021)
Article
Genetics & Heredity
Joana Ferreira, Manuel Bicho, Fatima Serejo
Summary: This study aimed to investigate the influence of ABCA1 gene polymorphism on the severity of liver disease and found that this polymorphism varies according to gender. In patients with chronic hepatitis C, ABCA1 gene polymorphism is associated with serum lipid levels and liver function parameters. In terms of gender differences, females carrying the ABCA1 mutation are associated with higher viral serum levels, while males carrying the ABCA1 mutation are associated with higher liver enzymes, lower total cholesterol, and increased disease severity.
Article
Genetics & Heredity
Murali Munisamy, Srinivasan Munisamy, Julka Pramod Kumar, Anmi Jose, Levin Thomas, Gayathri Baburaj, Vivekanandhan Subbiah
Summary: This study investigates the impact of MDR1 gene polymorphism on plasma TMZ levels and survival time in north-Indian patients with glioma. The TT genotype showed lower survival benefit compared to CT/CC genotypes, with survival differences mainly among Grade III tumor patients. Genotyping MDR1 (1236C>T) gene polymorphism could potentially predict TMZ therapy outcomes in malignant glioma.
PHARMACOGENOMICS JOURNAL
(2021)
Article
Pharmacology & Pharmacy
Yubing Dong, Yi Lin, Wanyu Liu, Wei Zhang, Yinong Jiang, Wei Song
Summary: The study investigated the lipid profile in hypertensive disorders of pregnancy (HDP) patients, finding significantly altered levels of plasma triglycerides, total cholesterol, LDL-C, and HDL-C compared to normotensive controls. ANP was shown to inhibit ABCA1 and ABCG1 expression at both mRNA and protein levels, leading to impaired cholesterol efflux, possibly explaining the decreased HDL-C levels in HDP patients.
FRONTIERS IN PHARMACOLOGY
(2021)
Article
Dermatology
Takuya Takeichi, Takahiro Hamada, Mayuko Yamamoto, Yasutoshi Ito, Aya Kawaguchi, Haruka Kobashi, Takenori Yoshikawa, Hiroshi Koga, Norito Ishii, Takekuni Nakama, Yoshinao Muro, Tomoo Ogi, Masashi Akiyama
Summary: Pathogenic variants in the ABCA12 gene are important for the development of autosomal recessive congenital ichthyoses. In addition, these variants can also cause a non-congenital form of ichthyosis. This study found patients who carried ABCA12 variants but did not exhibit the typical congenital ichthyosis phenotype. These patients had unaffected geographic areas on their skin, suggesting a milder phenotype.
JOURNAL OF DERMATOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Genki Ichihara, Yoshinori Katsumata, Yuki Sugiura, Yuta Matsuoka, Rae Maeda, Jin Endo, Atsushi Anzai, Kohsuke Shirakawa, Hidenori Moriyama, Hiroki Kitakata, Takahiro Hiraide, Shinichi Goto, Seien Ko, Yuji Iwasawa, Kazuhisa Sugai, Kyohei Daigo, Shinya Goto, Kazuki Sato, Ken-ichi Yamada, Makoto Suematsu, Masaki Ieda, Motoaki Sano
Summary: This study found that glutathione release during ischemia-reperfusion (IR) is primarily dependent on the transporter MRP1, and its release induces ferroptosis. Suppression of glutathione release attenuates ferroptosis and reduces myocardial infarct size following IR.
CIRCULATION RESEARCH
(2023)
Article
Biochemistry & Molecular Biology
Su Mon Shwe, Sivaprasath Prabu, Dapeng Jing, Kanglai He, Zhenying Wang
Summary: The Cry1Ah and Vip3Aa19 proteins have a synergistic interaction in controlling the Yellow peach moth. Cry1Ah has a higher binding affinity for midgut receptors compared to Vip3Aa19, and there is no competition between them.
INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES
(2022)
Article
Genetics & Heredity
Omaththage P. Perera, Nathan S. Little, Heba Abdelgaffar, Juan Luis Jurat-Fuentes, Gadi V. P. Reddy
Summary: In this study, CRISPR/Cas9 was used to progressively eliminate different functional domains of ABCC2 in Helicoverpa zea, and the results showed mutations in ABCC2 were associated with Cry1Ac resistance. However, the study indicates that ABCC2 is not a major Cry1Ac receptor in H. zea, as the resistance ratios observed were lower compared to closely related moth species.
Article
Biochemistry & Molecular Biology
Silpa Narayanan, Nehaben A. Gujarati, Jing-Quan Wang, Zhuo-Xun Wu, Jagadish Koya, Qingbin Cui, Vijaya L. Korlipara, Charles R. Ashby, Zhe-Sheng Chen
Summary: The study showed that the novel benzamide derivative VKNG-2 can reverse MDR caused by overexpression of ABCG2 transporter in colon cancer cells; VKNG-2 significantly improves the efficacy of anticancer drugs in vitro and works by inhibiting the efflux function of the ABCG2 transporter.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Cardiac & Cardiovascular Systems
Gintare Muckiene, Domas Vaitiekus, Diana Zaliaduonyte, Agne Bartnykaite, Jurgita Plisiene, Vytautas Zabiela, Elona Juozaityte, Renaldas Jurkevicius
Summary: This study found an association between the ABCC1 rs4148350 gene and anthracycline-induced cardiotoxicity in patients with breast cancer, suggesting it could be a potential biomarker for assessing treatment side effects risk.
JOURNAL OF CARDIOVASCULAR DEVELOPMENT AND DISEASE
(2023)
Editorial Material
Toxicology
Perrine Hoet, Vincent Haufroid, Dominique Lison
ARCHIVES OF TOXICOLOGY
(2020)
Article
Oncology
Simone Hettmer, Guillaume Dachy, Guido Seitz, Abbas Agaimy, Catriona Duncan, Marjolijn Jongmans, Steffen Hirsch, Iris Kventsel, Uwe Kordes, Ronald R. de Krijger, Markus Metzler, Orli Michaeli, Karolina Nemes, Anna Poluha, Tim Ripperger, Alexandra Russo, Stephanie Smetsers, Monika Sparber-Sauer, Eveline Stutz, Franck Bourdeaut, Christian P. Kratz, Jean-Baptiste Demoulin
Summary: Infantile myofibromatosis (IM) presents a wide clinical spectrum, ranging from inconspicuous solitary soft tissue nodules to life-threatening complications. Familial IM follows an autosomal dominant mode of inheritance and is linked to PDGFRB germline variants. Mutant receptors remain sensitive to tyrosine kinase inhibitors and require a second hit for full activation.
Letter
Dermatology
A. Onoufriadis, B. Boulouadnine, G. Dachy, T. Higashino, H. Y. Huang, C. K. Hsu, M. A. Simpson, K. Bork, J. B. Demoulin, J. A. McGrath
BRITISH JOURNAL OF DERMATOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Emilie Guerit, Florence Arts, Guillaume Dachy, Boutaina Boulouadnine, Jean-Baptiste Demoulin
Summary: PDGFRA and PDGFRB are classical proto-oncogenes encoding receptor tyrosine kinases, with mutations linked to various tumors and diseases. Research has validated the effectiveness of tyrosine kinase inhibitors targeting PDGF receptors, such as imatinib, as a treatment for certain conditions.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2021)
Article
Geriatrics & Gerontology
Morgane M. Thibaut, Martina Sboarina, Martin Roumain, Sarah A. Potgens, Audrey M. Neyrinck, Florence Destree, Justine Gillard, Isabelle A. Leclercq, Guillaume Dachy, Jean-Baptiste Demoulin, Anne Tailleux, Sophie Lestavel, Marialetizia Rastelli, Amandine Everard, Patrice D. Cani, Paolo E. Porporato, Audrey Loumaye, Jean-Paul Thissen, Giulio G. Muccioli, Nathalie M. Delzenne, Laure B. Bindels
Summary: This study identified alterations in bile acid metabolism and hepatobiliary secretion in cancer cachexia, with an increase in systemic inflammation contributing to impairments in the hepatobiliary transport system. Targeting bile acids using cholestyramine reduced hepatic inflammation, while reducing interleukin 6 levels counteracted changes in gene expression related to hepatobiliary transport, bile acid synthesis, and inflammation. Serum bile acid levels were increased in cachectic cancer patients and strongly correlated with systemic inflammation.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2021)
Article
Toxicology
Sybille van den Brule, Margaux Rappe, Jerome Ambroise, Caroline Bouzin, Chantal Dessy, Adrien Paquot, Giulio G. Muccioli, Dominique Lison
Summary: Oral exposure to DEP at doses relevant for human health can alter the composition and function of the gut microbiota, but these changes do not translate into ultimate atherosclerotic or metabolic outcomes.
PARTICLE AND FIBRE TOXICOLOGY
(2021)
Article
Toxicology
Dominique Lison, Saloua Ibouraadaten, Sybille van den Brule, Milica Todea, Adriana Vulpoi, Flaviu Turcu, Christina Ziemann, Otto Creutzenberg, James C. Bonner, Marcel Ameloot, Hannelore Bove
Summary: In vitro models are widely used in nanotoxicology, where documenting the in vitro delivered dose of nanomaterials is crucial for data interpretation. However, quantifying the in vitro delivered dose of carbon nanotubes (CNTs) presents challenges due to their complex interactions with cells and biological matrices. This study applied femtosecond pulsed laser microscopy (FPLM) to assess the in vitro delivered dose of multi-walled CNTs (MWCNTs) and demonstrated the importance of accurately estimating delivered doses in cell culture experiments with nanomaterials. The FPLM measurements provided valuable insights into the interaction between MWCNTs and cultured cells, potentially refining our understanding of their toxicity mechanisms.
PARTICLE AND FIBRE TOXICOLOGY
(2021)
Article
Toxicology
Dominique Lison, Jerome Ambroise, Riccardo Leinardi, Saloua Ibouraadaten, Yousof Yakoub, Gladys Deumer, Vincent Haufroid, Adrien Paquot, Giulio G. Muccioli, Sybille van den Brule
Summary: The study aimed to investigate the effects of oral exposure to AgAc on GM alterations in rats at doses causing reproductive toxicity. From 4 mg/kg b.w./d onwards, systemic toxicity was observed, with reduction of serum ferroxidase activity and serum Cu and Se concentrations. AgAc-induced systemic toxicity may contribute to explain reprotoxic manifestations.
ARCHIVES OF TOXICOLOGY
(2021)
Review
Cardiac & Cardiovascular Systems
Alexandre Persu, Piotr Dobrowolski, Heather L. Gornik, Jeffrey W. Olin, David Adlam, Michel Azizi, Pierre Boutouyrie, Rosa Maria Bruno, Marion Boulanger, Jean-Baptiste Demoulin, Santhi K. Ganesh, Tomasz J. Guzik, Magdalena Januszewicz, Jason C. Kovacic, Mariusz Kruk, Peter de Leeuw, Bart L. Loeys, Marco Pappaccogli, Melanie H. A. M. Perik, Emmanuel Touze, Patricia Van der Niepen, Daan J. L. Van Twist, Ewa Warchol-Celinska, Aleksander Prejbisz, Andrzej Januszewicz
Summary: Fibromuscular dysplasia (FMD) is a non-atherosclerotic vascular disease that predominantly affects women. Its exact cause is still poorly understood, but it is likely to involve a combination of genetic and environmental factors, leading to arterial fibrosis, cellular hyperplasia, and distortion of the arterial wall architecture. FMD can affect various arteries throughout the body, not just the renal and cerebrovascular arteries.
CARDIOVASCULAR RESEARCH
(2022)
Article
Biochemistry & Molecular Biology
Emeline Bollaert, Melissa Claus, Virginie Vandewalle, Sandrine Lenglez, Ahmed Essaghir, Jean-Baptiste Demoulin, Violaine Havelange
Summary: The study found that miR-15a-5p induces chemoresistance in AML cells by inhibiting daunorubicin-induced autophagy, suggesting that this miRNA could be a promising therapeutic target for chemoresistant AML patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Cell Biology
Guillaume Dachy, Sylvie Fraitag, Boutaina Boulouadnine, Sabine Cordi, Jean-Baptiste Demoulin
Summary: The study identified different gene fusions in myofibroma patients, including a novel COL4A1-VEGFD fusion, which provides new insights for the diagnosis and treatment of myofibroma.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE
(2021)
Article
Cell Biology
Audrey Nedelec, Emilie M. Guerit, Guillaume Dachy, Sandrine Lenglez, Lok San Wong, Florence A. Arts, Jean-Baptiste Demoulin
Summary: Penttinen syndrome is a rare progeroid disorder caused by mutations in the PDGF receptor beta gene. This study demonstrates that the PDGFRB p.Val665Ala variant has unique features at the molecular level, which may be associated with the symptoms of Penttinen syndrome.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE
(2022)
Article
Virology
Bradley Ward, Jean Cyr Yombi, Jean-Luc Balligand, Patrice D. Cani, Jean-Francois Collet, Julien de Greef, Joseph P. Dewulf, Laurent Gatto, Vincent Haufroid, Sebastien Jodogne, Benoit Kabamba, Sebastien Pyr Dit Ruys, Didier Vertommen, Laure Elens, Leila Belkhir
Summary: This paper introduces the HYGIEIA project, which aims to study the molecular mechanisms and post-COVID conditions through a multi-omic approach and network medicine analysis. By analyzing high-throughput sequencing and mass-spectrometry data from multiple biological layers, meaningful discoveries are expected and can be translated into improvements in clinical practice.
Article
Infectious Diseases
Perrin Ngougni Pokem, Xavier Wittebole, Christine Collienne, Hector Rodriguez-Villalobos, Paul M. Tulkens, Laure Elens, Francoise Van Bambeke, Pierre-Francois Laterre
Summary: This study investigated the pharmacokinetics of temocillin in plasma and ascitic fluid, and performed dosing simulations. The current dosing regimen achieved the target concentration in plasma, but not in ascitic fluid. Adjusting the dosing regimen might allow for target concentration attainment in ascitic fluid, but further evaluation is needed for safety and efficacy.
Article
Chemistry, Multidisciplinary
Stefania Canana, Cristina Pavan, Chiara Bellomo, Guillermo Escolano-Casado, Giuseppe Chilla, Dominique Lison, Lorenzo Mino, Francesco Turci
Summary: This study reveals the mechanistic data about the interactions between layered silicates (LS) and biomembranes, providing a basis for understanding the interfacial phenomena of LS.
ADVANCED MATERIALS INTERFACES
(2022)