Article
Cardiac & Cardiovascular Systems
Julia Brandts, Kausik K. Ray
Summary: Early detection of FH and normalization of LDL cholesterol levels are crucial for preventing cardiovascular disease. Various treatments targeting LDL receptor-dependent and independent pathways can be used to manage FH effectively.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Beatriz Javega, Guadalupe Herrera, Jose-Enrique O'Connor
Summary: This study validated a new experimental model to assess the specificity of fluorescent probes and different ROS species in a bacterial model. The results showed that the fluorescent probe MitoPY1 has higher sensitivity and specificity for detecting H2O2, while H2DCF-DA is more sensitive to organic peroxides. Additionally, there is a correlation between the lipophilicity of peroxides and their toxicity to bacteria. These findings help reduce experimental errors and provide recommendations for cytometric studies of oxidative stress.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Volodymyr Lushchak, Oleh Lushchak
Summary: In living organisms, most oxygen is reduced to water through four-electron reduction, but a small percentage is reduced through one-electron mechanisms to produce reactive oxygen and nitrogen species. These species interact with various components of living organisms, leading to diverse effects on biological systems.
CHEMICO-BIOLOGICAL INTERACTIONS
(2021)
Article
Cardiac & Cardiovascular Systems
Kei Sasaki, Hayato Tada, Masa-aki Kawashiri, Toshimitsu Ito
Summary: We report a highly rare family where the phenotypes of familial hypercholesterolemia are canceled out by the coexistence of type 1 familial hypobetalipoproteinemia caused by an APOB truncating mutation.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Kevin Chemello, Javier Garcia-Nafria, Antonio Gallo, Cesar Martin, Gilles Lambert, Dirk Blom
Summary: Familial hypercholesterolemia is a common genetic disorder characterized by high levels of LDL-C and increased risk of premature cardiovascular events. Research focuses on clinical phenotypes, genetic variants, and therapeutic approaches.
JOURNAL OF LIPID RESEARCH
(2021)
Review
Cardiac & Cardiovascular Systems
Allan D. Sniderman, Tamara Glavinovic, George Thanassoulis
Summary: Familial hypercholesterolemia (FH) is a monogenic, autosomal dominant disorder characterized by severe hypercholesterolemia within families. However, recent studies have found that FH can only explain a small portion of severe hypercholesterolemia cases. Moreover, a significant number of FH patients do not have marked hypercholesterolemia. The definition of FH and the regulation of low-density lipoprotein concentration in individuals with or without FH are being questioned, emphasizing the importance of therapy and family screening for all patients with severe hypercholesterolemia.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Hayato Tada, Akihiro Nomura, Atsushi Nohara, Soichiro Usui, Kenji Sakata, Kenshi Hayashi, Noboru Fujino, Masayuki Takamura, Masa-aki Kawashiri
Summary: This study aimed to investigate the association between attainment of low-density lipoprotein (LDL) cholesterol treatment target and better prognosis in patients with familial hypercholesterolemia (FH). The findings suggest that attainment of the LDL cholesterol treatment target is associated with a reduced occurrence of major adverse cardiac events (MACEs).
Article
Genetics & Heredity
Ilhame Diboun, Yasser Al-Sarraj, Salman M. Toor, Shaban Mohammed, Nadeem Qureshi, Moza S. H. Al Hail, Amin Jayyousi, Jassim Al Suwaidi, Omar M. E. Albagha
Summary: This study investigated the genetic spectrum and estimated the prevalence of familial hypercholesterolemia (FH) in Qatar by combining whole-genome sequencing data and deep phenotype data. The results revealed an estimated prevalence of 0.8% for definite/probable cases of FH in the Qatari population and identified known pathogenic and possibly pathogenic mutations associated with FH.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Hayato Tada, Nobuko Kojima, Kan Yamagami, Akihiro Nomura, Atsushi Nohara, Soichiro Usui, Kenji Sakata, Noboru Fujino, Masayuki Takamura, Masa-Aki Kawashiri
Summary: This study retrospectively investigated the associations between genotypes and phenotypes in patients with familial hypercholesterolemia (FH). The results showed that pathogenic variants, especially protein-truncating variants (PTVs), are significantly associated with poor outcomes in FH patients.
FRONTIERS IN GENETICS
(2022)
Article
Cardiac & Cardiovascular Systems
Hayato Tada, Hirofumi Okada, Atsushi Nohara, Masayuki Takamura, Masa-aki Kawashiri
Summary: The study found that in patients with familial hypercholesterolemia, regression of Achilles tendon thickness (ATT) played a role in controlling the development of major adverse cardiovascular events. Factors such as age, hypertension, and diabetes were positively correlated with changes in ATT, while baseline ATT and FH-related gene mutations were negatively correlated with changes in ATT. Through controlling these factors, regression of ATT was significantly associated with reduced MACE.
Article
Health Care Sciences & Services
Victoria Korneva, Tatyana Kuznetsova, Ulrich Julius
Summary: Cumulative LDL-C level plays an important role in the development of coronary heart disease (CHD) in patients with familial hypercholesterolemia (FH), and the index cumulative LDL-C/age also has a predictive role.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Medical Laboratory Technology
Huy Anh Bach, Phuong Nhung Vu, Thi Huyen Thuong Ma, Hai Ha Nguyen, Phan Tran Duc, Duc Bui Minh, Van Hai Nong, Dang Ton Nguyen
Summary: This case-control study investigated the association of antioxidant gene polymorphisms with male infertility in Vietnamese men. The research found that the SOD1:7958GA genotype and NOS3:-786CT genotype were significantly higher in the infertility group compared to the control group, and the frequency of the SOD2:c.47TC genotype was significantly higher in the male infertility group. Gene-gene interactions between SOD1, SOD2, and CAT SNPs might increase the risk of male infertility.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2023)
Review
Nutrition & Dietetics
Ana M. Gonzalez-Lleo, Rosa Maria Sanchez-Hernandez, Mauro Boronat, Ana M. Wagner
Summary: Familial hypercholesterolemia (FH) is a genetic disease that leads to high cholesterol levels, increased cardiovascular risk, and premature death. Diabetes is associated with increased risk of cardiovascular disease and mortality. FH patients appear to be less likely to develop diabetes, while cholesterol-lowering drugs may increase the risk of diabetes.
Article
Cardiac & Cardiovascular Systems
Hayato Tada, Kan Yamagami, Nobuko Kojima, Junichi Shibayama, Tetsuo Nishikawa, Hirofumi Okada, Akihiro Nomura, Soichiro Usui, Kenji Sakata, Masayuki Takamura, Masa-aki Kawashiri
Summary: The study revealed that the prevalence of APOE7 mutant among patients clinically diagnosed with FH was higher than expected, especially among those without other causative mutations. This suggests that APOE7 mutant may be one of the causes of FH, particularly in individuals without FH mutations.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2021)
Article
Pharmacology & Pharmacy
Fanrong Yao, Abdel A. Abdel-Rahman
Summary: The study reveals a protective role of tetrahydrobiopterin (BH4) against ethanol-induced cardiac dysfunction, and increasing BH4 levels can alleviate the adverse effects of ethanol.
EUROPEAN JOURNAL OF PHARMACOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Luciane C. Alberici, Helena C. F. Oliveira
Summary: Changes in plasma triglyceride metabolism and dietary fatty acid types are major contributors to metabolic and cardiovascular diseases. Mitochondrial adaptive responses play a crucial role in increasing energy expenditure and reducing oxidative stress in facing metabolic challenges.
ANTIOXIDANTS & REDOX SIGNALING
(2022)
Article
Pharmacology & Pharmacy
Claudia D. C. Navarro, Annelise Francisco, Tiago R. Figueira, Juliana A. Ronchi, Helena C. F. Oliveira, Anibal E. Vercesi, Roger F. Castilho
Summary: The mechanisms by which a high-fat diet promotes non-alcoholic fatty liver disease appear to involve liver mitochondrial dysfunction and redox imbalance. The present study showed that pharmacological reactivation of pyruvate dehydrogenase by dichloroacetate attenuated the mitochondrial redox dysfunction and the development of NAFLD in NAD(P) transhydrogenasenull mice fed an HFD.
EUROPEAN JOURNAL OF PHARMACOLOGY
(2022)
Meeting Abstract
Biochemistry & Molecular Biology
Mariana de Oliveira, Fabiola Monica, Gabriela Passos, Jamaira Victorio, Ana Paula Davel, Fabio da Silva, Edson Antunes
FREE RADICAL BIOLOGY AND MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Leandro Henrique de Paula Assis, Gabriel de Gabriel Dorighello, Helena Coutinho Franco De Oliveira
Summary: In this study, the relationship between macrophage immune phenotype and mitochondrial bioenergetics, cell redox state, and endoplasmic reticulum (ER)-mitochondria interaction was investigated. The results reveal that different inflammatory stimuli lead to changes in macrophage metabolism and redox state, which are associated with the interaction between mitochondria and ER.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2022)
Article
Peripheral Vascular Disease
Gabriel G. Dorighello, Juliana C. Rovani, Bruno A. Paim, Thiago Rentz, Leandro H. P. Assis, Anibal E. Vercesi, Helena C. F. Oliveira
Summary: This study demonstrates that activation of mild mitochondrial uncoupling can delay the development of atherosclerosis under the conditions of hypercholesterolemia and oxidative stress. These findings promote future approaches targeting mitochondria for the prevention or treatment of atherosclerosis.
JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS
(2022)
Article
Medicine, Research & Experimental
Emilia C. Peres, Jamaira A. Victorio, Valeria Nunes-Souza, Ana Cristina Breithaupt-Faloppa, Luiza A. Rabelo, Wothan Tavares-de-Lima, Ana Paula Davel, Luciana V. Rossoni
Summary: The study found that intestinal ischemia/reperfusion negatively impacts pulmonary artery function and oxidative stress, while acute simvastatin pretreatment can protect pulmonary artery function, reduce inflammation factor release.
Article
Biochemistry & Molecular Biology
Gabriel G. Dorighello, Leandro H. P. Assis, Thiago Rentz, Joseane Morari, Monique F. M. Santana, Marisa Passarelli, Neale D. Ridgway, Anibal E. Vercesi, Helena C. F. Oliveira
Summary: The expression of CETP in macrophages modulates mitochondrial structure and function, promotes an intracellular antioxidant state and oxidative metabolism, and reduces the expression of inflammatory genes and cholesterol accumulation.
Article
Biochemistry & Molecular Biology
Mariana G. de Oliveira, Fabiola Z. Monica, Gabriela R. Passos, Jamaira A. Victorio, Ana Paula Davel, Anna Lethicia Lima Oliveira, Carlos A. Parada, Carlos A. L. D'Ancona, Warren G. Hill, Edson Antunes
Summary: This study investigated the contribution of NADPH oxidase (NOX) isoforms in ROS generation and voiding dysfunction in mice with CYP-induced cystitis. The results suggest that selective inhibition of NOX2 by GSK2795039 may be a promising target for future therapies for IC/BPS.
Article
Biochemistry & Molecular Biology
Gabriel Dorighello, Michael McPhee, Katie Halliday, Graham Dellaire, Neale D. Ridgway
Summary: CRISPR editing was used to generate CEPT1 and CHPT1 KO U2OS cells. CEPT1-KO cells showed a reduction of 50% and 80% in PC and PE synthesis respectively, while PC synthesis in CHPT1-KO cells was reduced by 50%. CEPT1-KO resulted in increased CCT alpha protein expression and dephosphorylation, which could be prevented by incubating with PC liposomes. Additionally, CEPT1-KO led to the accumulation of small cytoplasmic LDs and increased nuclear LDs enriched in CCT alpha.
JOURNAL OF BIOLOGICAL CHEMISTRY
(2023)
Review
Endocrinology & Metabolism
Israelle Netto Freitas, Joel Alves da Silva Jr, Kenia Moreno de Oliveira, Bruna Lourenconi Alves, Thiago Dos Reis Araujo, Joao Paulo Camporez, Everardo Magalhaes Carneiro, Ana Paula Davel
Summary: Adipose tissue, an organ with metabolic and endocrine activity, undergoes morphological, functional, and molecular changes during obesity. The ER stress inhibitor TUDCA has shown therapeutic potential in minimizing adipose tissue dysfunction and metabolic alterations associated with obesity. Specifically, TUDCA has been demonstrated to inhibit ER stress, inflammation, and apoptosis in adipocytes, and may have cardiovascular protective effects through its influence on perivascular adipose tissue (PVAT) function and adiponectin release.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Thiago Rentz, Gabriel G. Dorighello, Renata R. dos Santos, Lohanna M. Barreto, Israelle N. Freitas, Carolina M. Lazaro, Daniela S. Razolli, Patricia M. Cazita, Helena C. F. Oliveira
Summary: CETP activity decreases HDL-cholesterol concentrations, but CETP expression in macrophages can reduce cholesterol accumulation, inflammation, and increase antioxidant capacity. Transplantation experiments showed that CETP expression did not change vascular lesion areas but decreased macrophage and neutrophil content, mitigating inflammation. These findings help explain the failure of CETP inhibitors in reducing atherosclerotic events.
Article
Biology
A. P. Jarrete, L. T. Giollo-Junior, J. F. Vilela-Martin, I. P. Novais, M. A. Delbin, A. Zanesco
Summary: This study found that postmenopausal women (PMW) with type 2 diabetes mellitus (T2DM) have a higher risk of cardiovascular complications compared to diabetic men. Diabetic PMW showed impaired microvascular function, higher levels of pro-inflammatory biomarkers (CML and CRP), and lower adiponectin concentration. This suggests that diabetic PMW are more susceptible to the detrimental effects of hyperglycemia compared to men.
BRAZILIAN JOURNAL OF MEDICAL AND BIOLOGICAL RESEARCH
(2022)