Article
Biochemistry & Molecular Biology
Alexandre Umpierrez Amaral, Moacir Wajner
Summary: Maple syrup urine disease (MSUD) is a rare neurometabolic disorder characterized by acute episodes of encephalopathy and progressive neurological deterioration. The pathogenesis of MSUD is not fully understood, but evidence suggests that the branched-chain amino acids (BCAA) and branched-chain alpha-keto acids (BCKA) may play a role in the brain injury associated with this disease.
NEUROCHEMISTRY INTERNATIONAL
(2022)
Article
Endocrinology & Metabolism
Karoline Teixeira Fermo, Isabela da Silva Lemos, Hemelin Resende Farias, Marina Peyrot Rosso, Pauline Souza Effting, Guilhian Leipnitz, Emilio Luiz Streck
Summary: Maple Syrup Urine Disease (MSUD) is a congenital metabolic disorder characterized by the accumulation of branched-chain amino acids (BCAA) in tissues. The mechanisms behind the neurological damage caused by BCAA in MSUD are not fully understood. This study found that BCAA can induce the overproduction of reactive oxygen species, which in turn modulates cellular homeostasis through autophagy. The administration of BCAA increased autophagy and autophagic cell death in the brain structures of rats.
METABOLIC BRAIN DISEASE
(2023)
Article
Endocrinology & Metabolism
Emilio L. Streck, Felipe P. Bussular, Leticia B. Wessler, Mariane B. Duarte, Victoria L. Rezende, Matheus S. Rodrigues, Carolina A. Torres, Isabela S. Lemos, Gabriela Candiotto, Fernanda F. Gava, Jade de Oliveira, Samira S. Valvassori
Summary: Maple Syrup Urine Disease (MSUD) is a genetic disorder that affects the metabolism of branched-chain amino acids (BCAA) and can lead to neurological impairments. In a study using an animal model of MSUD, it was found that administration of BCAA increased the activity of DNMT and HDAC enzymes in the hippocampus and striatum, but not in the cerebral cortex. This suggests that modulation of epigenetic regulatory enzymes could contribute to the neurological symptoms observed in MSUD.
METABOLIC BRAIN DISEASE
(2021)
Article
Medical Laboratory Technology
Shujun Ma, Zhongxin Zhang, Yanyan Fu, Mingxia Zhang, Yuna Niu, Ruiguang Li, Qinghe Guo, Zhian He, Qingwei Zhao, Zhishan Song, Xia Wang, Ruili Sun
Summary: By using targeted capture sequencing, Real-Time PCR, whole genome sequencing, long-range PCR, and Sanger sequencing, a family with clinical symptoms of maple syrup urine disease was found to have compound heterozygous mutations, including a small deletion mutation and a gross novel deletion, with the junction site of the deletion located within two Alu elements.
CLINICA CHIMICA ACTA
(2021)
Article
Endocrinology & Metabolism
Daniel O'Reilly, Ellen Crushell, Joanne Hughes, Stephanie Ryan, Yvonne Rogers, Ingrid Borovickova, Philip Mayne, Michael Riordan, Atif Awan, Kevin Carson, Kim Hunter, Bryan Lynch, Amre Shahwan, Veronique Rufenacht, Johannes Haberle, Eileen P. Treacy, Ahmad A. Monavari, Ina Knerr
Summary: Since 1972, 18 patients with neonatal-onset maple syrup urine disease (MSUD) have been detected by newborn bloodspot screening (NBS) in Ireland. Treatment has been based on early implementation of emergency treatment, diet, close monitoring, and even dialysis in the setting of acute metabolic decompensation. Early diagnosis and skilled multidisciplinary team management are crucial for achieving good outcomes for patients.
JOURNAL OF INHERITED METABOLIC DISEASE
(2021)
Article
Endocrinology & Metabolism
Fabio A. Morais, Isabela S. Lemos, Rafaela T. Matiola, Maria Luisa S. Freitas, Carolina G. Alano, Julia Cabral, Leticia B. Wessler, Jaqueline S. Generoso, Giselli Scaini, Gislaine Z. Reus, Emilio L. Streck
Summary: Maple Syrup Urine Disease (MSUD) is a metabolic disorder caused by deficiency in an enzyme complex, leading to the accumulation of certain amino acids. This study demonstrates that chronic administration of these amino acids can induce depressive-like behavior in rats, as well as alter neurotrophin levels. However, treatment with an antidepressant drug can prevent these behavioral changes and restore neurotrophin levels.
METABOLIC BRAIN DISEASE
(2022)
Article
Genetics & Heredity
Diana Ruffato Resende Campanholi, Ana Vitoria Barban Margutti, Wilson A. Silva, Daniel F. Garcia, Greice A. Molfetta, Adriana A. Marques, Ida Vanessa Doederlein Schwartz, V. Cornejo, Valerie Hamilton, Gabriela Castro, Fernanda Sperb-Ludwig, Ester S. Borges, Jose S. Camelo
Summary: Maple syrup urine disease (MSUD) is a metabolic disorder caused by deficient BCKD enzymatic complex activity. This study identified novel pathogenic mutations in BCKDHA, BCKDHB, and DBT genes in Chilean MSUD patients, and found no correlation between genotype and phenotype. Early diagnosis through newborn screening may help establish genotype-phenotype relationships more efficiently.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Medicine, General & Internal
Yun-Ting Lin, Yan-Na Cai, Tzer Hwu Ting, Li Liu, Chun-Hua Zeng, Ling Su, Min-Zhi Peng, Xiu-Zhen Li
Summary: This study shares the diagnostic experience of an intermediate MSUD case and highlights the importance of genetic analysis in ambiguous cases, as well as the need to avoid missing patients with non-classic mild phenotypes of MSUD.
WORLD JOURNAL OF CLINICAL CASES
(2023)
Article
Endocrinology & Metabolism
Jenny A. Greig, Matthew Jennis, Aditya Dandekar, Joanna K. Chorazeczewski, Melanie K. Smith, Scott N. Ashley, Hanying Yan, James M. Wilson
Summary: Maple syrup urine disease (MSUD) is a rare genetic metabolic disorder with no cure, but gene therapy could be a potential treatment approach. Research suggests that a gene therapy vector that targets both muscle and liver may be an effective strategy for treating MSUD.
MOLECULAR GENETICS AND METABOLISM
(2021)
Article
Genetics & Heredity
Jean-Meidi Alili, Marie-Pierre Berleur, Marie-Caroline Husson, Karine Mention, Manuel Schiff, Jean-Baptiste Arnoux, Anais Brassier, Anne-Sophie Guemman, Coraline Grisel, Sandrine Dubois, Marie-Therese Abi-Warde, Christine Broissand, Aude Servais, Myriam Dao, Pascale de Lonlay
Summary: The study found that intravenous administration of BCAA-free solution is a safe and effective treatment for metabolic decompensations in MSUD patients. It can quickly normalize leucine concentrations and provide an alternative treatment option for patients who cannot receive BCAA-free mixture orally or via nasogastric routes.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Article
Nutrition & Dietetics
Imran Ramzan, Moira Taylor, Beth Phillips, Daniel Wilkinson, Kenneth Smith, Kate Hession, Iskandar Idris, Philip Atherton
Summary: The study successfully designed and evaluated a diet aimed at reducing circulating branched-chain amino acids (BCAAs) in humans, achieving a 50% reduction while maintaining energy balance and overall energy/protein intake.
Review
Cell Biology
Michaela E. Trautman, Nicole E. Richardson, Dudley W. Lamming
Summary: The proportion of people suffering from age-related diseases is increasing worldwide. Recent research has shown that low protein diets, particularly those low in branched-chain amino acids (BCAAs), can reduce mortality and promote metabolic health and extended lifespan in both humans and rodents. This article discusses the emerging evidence that BCAAs play a crucial role in healthy metabolism and longevity, and explores the physiological and molecular mechanisms behind the benefits of restricting dietary BCAAs. The findings suggest that the quality of protein, specifically the composition of dietary protein, may be a previously overlooked factor in metabolic dysfunction and reducing dietary BCAAs could be a promising new approach to delaying and preventing age-related diseases.
Article
Genetics & Heredity
Tomoyasu Higashimoto, Matthew T. Whitehead, Erin MacLeod, Danielle Starin, Debra S. Regier
Summary: Maple syrup urine disease (MSUD) is a metabolic disorder that impairs the breakdown of certain amino acids, leading to toxic buildup in the blood. Early recognition and treatment are essential to prevent acute episodes of metabolic decompensation and associated complications. Long-term effects of chronic hyperleucemia in MSUD patients may include cognitive impairment and mental health disorders.
MOLECULAR GENETICS AND METABOLISM REPORTS
(2022)
Article
Medicine, General & Internal
K. K. Harshyenee, Pranav Ajmera, Aastha Agarwal, Ajay Dahiya, Vinay Kumar Parripati
Summary: Maple syrup urine disease (MSUD) is a rare autosomal-recessive disorder caused by a deficiency of a specific enzyme. This leads to the accumulation of BCAAs in the body, resulting in various symptoms such as feeding problems, vomiting, lethargy, and irritability. If left untreated, it can lead to seizures, coma, and death. Blood and urine analysis can detect the accumulation of BCAAs.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2023)
Article
Pharmacology & Pharmacy
Tiangang Wu, Mengling Wang, Fengling Ning, Shilin Zhou, Xuetao Hu, Hong Xin, Svetlana Reilly, Xuemei Zhang
Summary: Fibrosis, characterized by excessive production of extracellular matrix, is a common pathological feature of organ diseases. Metabolic alterations, especially in the regulation of branched-chain amino acids (BCAAs), have been found to play significant roles in fibrogenesis. Dysregulation of BCAAs metabolism has been implicated in various diseases. This review summarizes the metabolic regulation of fibrosis, changes in BCAAs metabolism associated with fibrosis, and the effects and mechanisms of BCAAs intervention in hepatic, renal, and cardiac fibrosis, with a focus on liver fibrosis and associated hepatocellular carcinoma.
PHARMACOLOGICAL RESEARCH
(2023)
Article
Endocrinology & Metabolism
Fabio A. Morais, Isabela S. Lemos, Rafaela T. Matiola, Maria Luisa S. Freitas, Carolina G. Alano, Julia Cabral, Leticia B. Wessler, Jaqueline S. Generoso, Giselli Scaini, Gislaine Z. Reus, Emilio L. Streck
Summary: Maple Syrup Urine Disease (MSUD) is a metabolic disorder caused by deficiency in an enzyme complex, leading to the accumulation of certain amino acids. This study demonstrates that chronic administration of these amino acids can induce depressive-like behavior in rats, as well as alter neurotrophin levels. However, treatment with an antidepressant drug can prevent these behavioral changes and restore neurotrophin levels.
METABOLIC BRAIN DISEASE
(2022)
Article
Endocrinology & Metabolism
Karoline Teixeira Fermo, Isabela da Silva Lemos, Hemelin Resende Farias, Marina Peyrot Rosso, Pauline Souza Effting, Guilhian Leipnitz, Emilio Luiz Streck
Summary: Maple Syrup Urine Disease (MSUD) is a congenital metabolic disorder characterized by the accumulation of branched-chain amino acids (BCAA) in tissues. The mechanisms behind the neurological damage caused by BCAA in MSUD are not fully understood. This study found that BCAA can induce the overproduction of reactive oxygen species, which in turn modulates cellular homeostasis through autophagy. The administration of BCAA increased autophagy and autophagic cell death in the brain structures of rats.
METABOLIC BRAIN DISEASE
(2023)
Article
Psychiatry
Krista M. Wartchow, Rafaela C. Cordeiro, Giselli Scaini
Summary: Recent studies have found associations between bipolar disorder and inflammation, oxidative stress, abnormalities in signaling pathways, hypothalamic-pituitary-adrenal axis, and circadian rhythm linked to mitochondrial dysfunction. However, more research is needed to validate these findings and increase their predictive ability.
CURRENT OPINION IN PSYCHIATRY
(2023)
News Item
Biochemistry & Molecular Biology
Giselli Scaini, Joao Quevedo
MOLECULAR PSYCHIATRY
(2023)
Article
Clinical Neurology
Melissa Talita Wiprich, Stefani Altenhofen, Darlan Gusso, Rafaela da Rosa Vasques, Rodrigo Zanandrea, Luiza Wilges Kist, Mauricio Reis Bogo, Carla Denise Bonan
Summary: This study investigated the effects of acute exposure to different substances in an HD pharmacological model induced by 3-NPA in adult zebrafish. The results showed that some substances could reverse or exacerbate the bradykinesia symptoms of HD, and also reverse memory impairment. The study suggests that these substances play an important role in modulating locomotor function and memory, and may be a potential pharmacological strategy against late-stage symptoms of HD.
PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY
(2022)
Article
Dentistry, Oral Surgery & Medicine
Warley Luciano Fonseca Tavares, Ana Cecilia Diniz Viana, Marcus Vinicius Lucas Ferreira, Gabriela da Costa Ferreira, Isabella da Costa Ferreira, Ricardo Alves de Mesquita, Rodrigo Rodrigues Amaral
Summary: External cervical resorption (ECR) is a type of dental resorption that occurs when the cementum's protective layer is lost, leading to the invasion of clastic cells and tooth resorption. This case report examines the use of guided tissue regeneration (GTR) with xenogenic material and polydioxanone membrane to treat class IV ECR. The successful outcome highlights the importance of correct diagnosis and treatment planning, including thorough debridement and restoration with biodentine, as well as the use of GTR for stabilizing periodontal tissues.
JOURNAL OF ENDODONTICS
(2023)
Article
Endocrinology & Metabolism
Franciele Rabelo, Isabela da S. Lemos, Camila P. Dal Toe, Debora D. Casagrande, Maria Luisa S. Freitas, Micaela R. Quadra, Igor R. Lima, Jaqueline S. Generoso, Monique Michels, Paulo C. L. Silveira, Felipe Dal Pizzol, Emilio Luiz Streck
Summary: Maple Syrup Urine Disease (MSUD) is a genetic disorder that causes the accumulation of certain amino acids in the body. This can lead to oxidative stress and inflammation, which play a role in the disease's progression. In this study, the researchers investigated the acute effects of a specific amino acid on inflammatory markers in rats.
METABOLIC BRAIN DISEASE
(2023)
Review
Environmental Sciences
Kaue Pelegrini, Talita Carneiro Brandao Pereira, Thuany Garcia Maraschin, Lilian De Souza Teodoro, Nara Regina De Souza Basso, Griselda Ligia Barrera De Galland, Rosane Angelica Ligabue, Mauricio Reis Bogo
Summary: Polymeric wastes, especially microplastics (MPs) and nanoplastics (NPs), contribute to significant environmental problems and can induce toxic effects on various organisms. This review aims to summarize the current knowledge and identify literature gaps regarding the generation and toxicological effects of MPs and NPs, considering factors such as polymer type, size, source, and test organisms. The analysis of 615 publications revealed that PS was the most commonly studied polymer, and toxicity testing primarily focused on arthropods and fish. NPs were found to exhibit greater toxicity than MPs, particularly in terms of oxidative stress.
SCIENCE OF THE TOTAL ENVIRONMENT
(2023)
Article
Communication
Marcelo Kischinhevsky, Gustavo Ferreira, Itala Maduell Vieira
Summary: This article discusses the role of serendipity in music streaming platforms and radio, emphasizing the connection between discovery, memory, and recognition. It explores the impact of serendipitous discovery on building bonds and fostering music innovation. The article also highlights the importance of considering the listeners' sociocultural background in creating serendipitous experiences, rather than relying solely on computer algorithms. Ultimately, it argues that understanding the complexity of serendipity is crucial for addressing critical issues in the music industry amidst the rise of platformization.
NEW MEDIA & SOCIETY
(2023)
Article
Mathematics
Gustavo Rodrigues Ferreira
Summary: Since the 1980s, significant advances have been made in determining the shared Julia sets of functions. While the polynomial case has been completely solved in 1995 using the symmetries of the Julia set, the rational case remains more complex. This study extends Beardon's results on the symmetry group of Julia sets and explores their application to singularly perturbed maps.
CONFORMAL GEOMETRY AND DYNAMICS
(2023)
Article
Neurosciences
Melissa Talita Wiprich, Rafaela da Rosa Vasques, Darlan Gusso, Gabriel Ruebensam, Luiza Wilges Kist, Mauricio Reis Bogo, Carla Denise Bonan
Summary: Huntington's disease is a progressive neurodegenerative disease characterized by neuropsychiatric disturbance, cognitive impairment, and locomotor dysfunction. The levels of dopamine and the expression of dopamine receptors are altered in different stages of the disease.
MOLECULAR NEUROBIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Rafaela C. Cordeiro, Camila N. C. Lima, Gabriel R. Fries, Giovana Zunta-Soares, Jair C. Soares, Joao Quevedo, Giselli Scaini
Summary: This study investigates the impact of mitochondrial dysfunction on bipolar disorder (BD). The study finds that BD patients have a lower mitochondrial health index (MHI) compared to non-psychiatry controls, with a negative correlation between MHI and cell-free mtDNA levels. The study further reveals that MHI is related to the expression of mitochondria quality control (MQC) proteins, and a longer illness duration, worse functional status, and higher depressive symptoms are associated with lower MHI and higher cell-free mtDNA levels.
MOLECULAR PSYCHIATRY
(2023)
News Item
Biochemistry & Molecular Biology
Samira S. Valvassori, Joao Quevedo, Giselli Scaini
MOLECULAR PSYCHIATRY
(2023)
Review
Clinical Neurology
Francielle Joyce Fuckner Leonel, Lauana de Paula, Gustavo Cezar Raab Ferreira, Dariel Matheus dos Reis do Nascimento, Talita Gianello Gnoato Zotz, Julia Milena de Melo, Ana Carolina Brandt de Macedo
Summary: The aim of this study is to compare the effects of two suspension training protocols on pain and musculoskeletal function in women with chronic low back pain. The study will be a randomized, controlled, blinded clinical trial. Women aged 18-60 years with chronic low back pain will be selected and randomized into three groups: STG1, STG2, and control group. STG1 and STG2 will undergo training twice a week for 60 minutes for 12 weeks. It is expected to evaluate pain reduction and functionality improvement in both groups and determine the best training protocol.
Article
Neurosciences
Isadora Matias, Luan Pereira Diniz, Ana Paula Bergamo Araujo, Isabella Vivarini Damico, Pamella de Moura, Felipe Cabral-Miranda, Fabiola Diniz, Belisa Parmeggiani, Valeria de Mello Coelho, Renata E. P. Leite, Claudia K. Suemoto, Gustavo Costa Ferreira, Regina Celia Cussa Kubrusly, Flavia Carvalho Alcantara Gomes
Summary: Aging is characterized by physiological changes in the brain, including the glutamatergic system, which leads to a decline in brain function. The increased presence of senescent cells, such as glial cells, has been found to impact cognition in both animal models and human tissue during normal aging and neurodegenerative disease. The mechanisms of glutamate homeostasis in brain aging are still not well understood.
