Article
Neurosciences
Colm J. McGinnity, Daniela A. Riano Barros, Eric Guedj, Nadine Girard, Christopher Symeon, Helen Walker, Sally F. Barrington, Mary Summers, Mervi Pitkanen, Yusof Rahman
Summary: The study found an association between historical mean Phe:Tyr ratio and blood biomarkers, providing better predictive value for cerebral glucose metabolism in patients with memory problems.
FRONTIERS IN NEUROSCIENCE
(2021)
Article
Chemistry, Multidisciplinary
Lenka Rysava, Milos Dvorak, Pavel Kuban
Summary: This study introduces a simple and convenient concept of automated blood sampling and analysis, allowing for accurate collection of blood samples and automated processing and analysis in a laboratory setting. Using warfarin blood concentration determination as an example, the concept demonstrates excellent analytical performance and wide applicability to various types of blood compounds.
ANGEWANDTE CHEMIE-INTERNATIONAL EDITION
(2021)
Review
Chemistry, Analytical
Agnieszka Niemiec
Summary: DBS as a new method of sample collection is simple, rapid, and does not require trained personnel to collect samples, playing an important role in newborn screening and toxicology, with a broad development potential in the future.
Review
Genetics & Heredity
April D. Adams, Moises O. Fiesco-Roa, Lawrence Wong, Gabrielle P. Jenkins, Jennifer Malinowski, Olivia M. Demarest, Paul G. Rothberg, ACMG Therapeutics Comm
Summary: The study aimed to evaluate the optimal serum phenylalanine (Phe) levels for patients with phenylalanine hydroxylase (PAH) deficiency and found that lowering Phe to <= 360 mu mol/L was highly effective in improving outcomes, although medication treatment may cause adverse events.
GENETICS IN MEDICINE
(2023)
Article
Neurosciences
Angela T. S. Wyse, Tiago M. dos Santos, Bianca Seminotti, Guilhian Leipnitz
Summary: Phenylketonuria is a metabolic disorder caused by phenylalanine hydroxylase deficiency, leading to neurological dysfunction and hepatic damage in severe cases. Studies have shown that phenylalanine and its metabolites may induce toxicity by affecting mitochondrial bioenergetics and oxidative status.
MOLECULAR NEUROBIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Justyna Spiewak, Ivan Doykov, Apostolos Papandreou, Jenny Haellqvist, Philippa Mills, Peter T. Clayton, Paul Gissen, Kevin Mills, Wendy E. Heywood
Summary: Dried blood spot (DBS) biomarkers are convenient for monitoring specific lysosomal storage diseases (LSDs), but may also have relevance for other LSDs. A study was conducted to determine the specificity and utility of glycosphingolipidoses biomarkers in a DBS cohort of patients with various LSDs. The findings indicated that DBS glucosylceramide isoform profiling increased the specificity for the detection of Niemann-Pick disease type C (NPC), thereby improving diagnostic accuracy.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Environmental Sciences
Abhishek Jain, Montana Morris, Elizabeth Z. Lin, Sajid A. Khan, Xiaomei Ma, Nicole C. Deziel, Krystal J. Godri Pollitt, Caroline H. Johnson
Summary: Dried blood spot (DBS) metabolomics has many applications but faces challenges in accurate metabolite quantification due to the hematocrit effect and unknown blood-spotting volumes. This study compared five normalization methods and found that Hb normalization outperformed others in terms of intragroup variation, differential metabolic analysis, and classification accuracy. The study also demonstrated a correlation between specific gravity (SG) and Hb in adults and proposed an equation to use SG as a surrogate for Hb normalization. This comparative study provides a robust methodological platform for future environmental epidemiological studies.
SCIENCE OF THE TOTAL ENVIRONMENT
(2023)
Article
Endocrinology & Metabolism
Shelley R. Winn, Sandra Dudley, Tanja Scherer, Nicole Rimann, Beat Thoeny, Sydney Boutros, Destine Krenik, Jacob Raber, Cary O. Harding
Summary: The study found that lifelong weekly pegvaliase treatment can prevent cognitive deficits associated with hyperphenylalaninemia in mice, particularly with significant improvements in overall growth of the mice with early treatment. However, cognitive deficits may reappear after discontinuation of treatment, especially when treatment is stopped in adulthood.
MOLECULAR GENETICS AND METABOLISM
(2022)
Article
Endocrinology & Metabolism
Jieun Kim, Seungbok Lee, Jaemeun Lee, Jong-Chan Park, Kyung Hyun Kim, Jung Min Ko, Sun-Hyun Park, Seung-Ki Kim, Inhee Mook-Jung, Ji Yeoun Lee
Summary: Phenylketonuria (PKU) is a genetic metabolic disorder that leads to the accumulation of phenylalanine in the blood. This study utilized human induced pluripotent stem cell (iPSC)-derived cerebral organoids to investigate the neurotoxicity of hyperphenylalaninemia. The findings suggest that phenylalanine exposure may contribute to microcephaly and abnormal cortical expansion in the developing human brain.
MOLECULAR GENETICS AND METABOLISM
(2022)
Article
Microbiology
Rima Jeske, Uta Merle, Barbara Mueller, Tim Waterboer, Julia Butt
Summary: This study tested the compatibility of dried blood spot (DBS) samples with a bead-based multiplex serology assay for detecting SARS-CoV-2 antibodies. The results showed a high correlation between DBS samples and serum samples, and the classification of SARS-CoV-2 seropositivity remained consistent when adjusting the cutoffs. This technology enables powerful sero-epidemiological studies in resource-poor settings.
Article
Medical Laboratory Technology
Binbin Shao, An Liu, Jingjing Zhang, Yan Wang, Fengchang Qiao, Cuiping Zhang, Yuqing Zhu, Yingchun Lin, Ping Hu, Tao Tao, Zhengwen Jiang, Jianxin Tan, Zhengfeng Xu
Summary: Through comparing the methods of next generation sequencing and SNaPshot, it was found that SNaPshot can accurately and rapidly detect PAH gene variants in patients with hyperphenylalaninemia, with high specificity and lower cost. In the population of 4,276 individuals in Eastern China, the carrier rate was approximately 1.73%, with c.728G > A being the most common variant.
CLINICA CHIMICA ACTA
(2021)
Review
Chemistry, Multidisciplinary
Valentina Iacuzzi, Bianca Posocco, Martina Zanchetta, Sara Gagno, Ariana Soledad Poetto, Michela Guardascione, Giuseppe Toffoli
Summary: This review critically investigates the DBS-to-plasma concentration conversion methods proposed and applied in the last decade for quantitative bioanalysis of anticancer drugs in DBS matrix, highlighting the need to address challenges in comparing drug concentrations obtained from DBS with those obtained from reference matrix to ensure treatment efficacy.
PHARMACEUTICAL RESEARCH
(2021)
Article
Chemistry, Analytical
Chih-Ning Cheng, Yu-Fong Peng, Ju-Yu Chen, Guan-Yuan Chen, Te- Weng, Ching-Hua Kuo
Summary: This study proposed an effective DBS preparation protocol to comprehensively evaluate the hematocrit (Hct) effect for accurate quantification of DBS samples. An LC-MS/MS method was used to quantify the target drugs in DBS samples, and the results showed the validity of the proposed protocol. This new protocol eliminated common pitfalls in studying the Hct effect and provided a comprehensive strategy for further DBS studies.
ANALYTICA CHIMICA ACTA
(2023)
Article
Medical Laboratory Technology
Marith I. Francke, Bart van Domburg, Daan van de Velde, Dennis A. Hesselink, Brenda C. M. de Winter
Summary: Dried blood spot (DBS) microsampling has advantages over venous blood sampling, but using freeze-dried standards may affect the accuracy of the results.
CLINICAL BIOCHEMISTRY
(2022)
Article
Microbiology
Jean H. H. Kim, Veronica Robles, Kristin E. D. Weimer, Lisa H. M. Gehtland, Katerina S. S. Kucera
Summary: The implementation of cCMV screening in public health programs is hindered by challenges such as limited specimen availability and an insufficiently sensitive DBS-based assay. Efforts have been made to improve the currently available DBS-based method in order to increase its feasibility in newborn screening programs. Evaluation: 7 out of 10.
MICROBIOLOGY SPECTRUM
(2023)
Review
Medicine, Research & Experimental
Giancarlo Parenti, Diego L. Medina, Andrea Ballabio
Summary: Lysosomal storage diseases are metabolic disorders caused by deficiencies in lysosomal function components. Understanding of lysosomal biology has evolved from organelles involved in catabolic pathways to dynamic elements involved in multiple cellular functions and capable of adapting to environmental stimuli. Novel technologies based on high-throughput approaches have greatly contributed to the characterization of lysosomal biology and dysfunction.
EMBO MOLECULAR MEDICINE
(2021)
Article
Genetics & Heredity
Claudia Ciaccio, Valentina Duga, Chiara Pantaleoni, Silvia Esposito, Isabella Moroni, Michele Pinelli, Raffaele Castello, Vincenzo Nigro, Luisa Chiapparini, Stefano D'Arrigo
Summary: TELO2-related syndrome is a rare disorder characterized by global developmental delay and various symptoms. We presented a case where two sisters with the syndrome showed a milder phenotype possibly due to a specific gene variant.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2021)
Article
Biochemistry & Molecular Biology
Denise Drongitis, Marianna Caterino, Lucia Verrillo, Pamela Santonicola, Michele Costanzo, Loredana Poeta, Benedetta Attianese, Adriano Barra, Gaetano Terrone, Maria Brigida Lioi, Simona Paladino, Elia Di Schiavi, Valerio Costa, Margherita Ruoppolo, Maria Giuseppina Miano
Summary: This study investigated the effects of mutations in the ARX gene on brain development and identified disrupted pathways related to cytoskeleton, protein synthesis, and splicing control. The study also found allele-dependent differences in neurite network organization, protein expression, and alternative splicing. Abnormal alternative splicing in the Neurexin-1 gene, which is involved in synaptic remodeling, was detected. These findings provide insights into the pathogenic mechanisms of ARX-related disorders and can inform the development of targeted therapies.
HUMAN MOLECULAR GENETICS
(2022)
Article
Pediatrics
Imke Anise Maartje Ditters, Hidde Harmen Huidekoper, Michelle Elisabeth Kruijshaar, Dimitris Rizopoulos, Andreas Hahn, Tiziana Enrico Mongini, Francois Labarthe, Marine Tardieu, Brigitte Chabrol, Anais Brassier, Rossella Parini, Giancarlo Parenti, Nadine Anna Maria Elisabeth van der Beek, Ans Tjitske van der Ploeg, Johanna Maria Pieternel van den Hout
Summary: This study assessed the effect of enzyme replacement therapy (ERT) with alglucosidase alfa on survival and walking ability in patients with classic infantile Pompe disease. The results showed that a high ERT dosage of 40 mg/kg per week significantly improved survival compared to the standard recommended dosage of 20 mg/kg every other week. These findings suggest a need for reconsideration of the currently registered dosage.
LANCET CHILD & ADOLESCENT HEALTH
(2022)
Review
Biochemistry & Molecular Biology
Alessandro Di Minno, Monica Gelzo, Marianna Caterino, Michele Costanzo, Margherita Ruoppolo, Giuseppe Castaldo
Summary: Metabolomics plays a crucial role in characterizing and refining perturbations of biological pathways. Limitations in implementing metabolomics have been addressed, and potential biomarkers have been discovered. Metabolomics is critical for personalized diagnosis and treatment.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Biochemistry & Molecular Biology
Michele Costanzo, Marianna Caterino, Roberta Fedele, Armando Cevenini, Mariarca Pontillo, Lucia Barra, Margherita Ruoppolo
Summary: This review summarizes the diverse knowledge acquired through the application of COVIDomics techniques, focusing on proteomics and metabolomics studies, to identify common dysregulation in proteins, metabolites, and pathways in COVID-19 disease. Exploring the multiomics perspective and data integration may lead to new therapeutic solutions against the COVID-19 pandemic.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Editorial Material
Cell Biology
Maria Marino, Roberta Misasi, Margherita Ruoppolo
Review
Biochemistry & Molecular Biology
Mariangela Succoio, Rosa Sacchettini, Alessandro Rossi, Giancarlo Parenti, Margherita Ruoppolo
Summary: Galactosemia is a genetic disorder that can be diagnosed at birth through newborn screening. There is currently no cure, and treatment involves managing the condition through dietary control.
Article
Biochemistry & Molecular Biology
Emanuela Marchese, Marianna Caterino, Roberta Fedele, Francesca Pirozzi, Armando Cevenini, Neha Gupta, Diego Ingrosso, Alessandra Perna, Giovambattista Capasso, Margherita Ruoppolo, Miriam Zacchia
Summary: This study provides insights into the mechanisms underlying renal disease in Bardet-Biedl syndrome (BBS) through urine metabolomic and proteomic analyses. The increased urinary excretion of lactate suggests a possible renal-specific defective handling. The BBS10 gene may play a role in renal metabolism, RNA processing, and cell proliferation.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Environmental Sciences
Stefania Orru, Esther Imperlini, Daniela Vitucci, Marianna Caterino, Annalisa Mandola, Morten Bredsgaard Randers, Jakob Friis Schmidt, Marie Hagman, Thomas Rostgaard Andersen, Peter Krustrup, Margherita Ruoppolo, Pasqualina Buono, Annamaria Mancini
Summary: Lifelong football training has a positive impact on the oxidative capacity and body composition of elderly individuals, promoting successful aging. Furthermore, polyamines play an important role in muscle growth and hypertrophy.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
(2022)
Article
Genetics & Heredity
Ferdinando Barretta, Fabiana Uomo, Simona Fecarotta, Lucia Albano, Daniela Crisci, Alessandra Verde, Maria Grazia Fisco, Giovanna Gallo, Daniela Dottore Stagna, Maria Rosaria Pricolo, Marianna Alagia, Gaetano Terrone, Alessandro Rossi, Giancarlo Parenti, Margherita Ruoppolo, Cristina Mazzaccara, Giulia Frisso
Summary: This study reports the diagnostic yield of genetic testing for MTHFR deficiency diagnosis in a reference Centre of Southern Italy between 2017 and 2022. The results showed that two NBS-positive newborns and one symptomatic patient had a genotype compatible with MTHFR deficiency. These findings strongly support the need for genetic testing to quickly support the definitive diagnosis of MTHFR deficiency and start therapy.
Article
Biochemistry & Molecular Biology
Ilaria Campesi, Giampiero Capobianco, Antonella Cano, Valeria Lodde, Sara Cruciani, Margherita Maioli, Giovanni Sotgiu, Maria Laura Idda, Mariangela Valentina Puci, Margherita Ruoppolo, Michele Costanzo, Marianna Caterino, Francesca Cambosu, Andrea Montella, Flavia Franconi
Summary: This study found sex-related differences in amniotic fluid and amniotic fluid cells. Inflammation markers and certain metabolites were higher in female amniotic fluid, while other metabolites were higher in male amniotic fluid. Female amniotic fluid cells expressed more estrogen receptors and proteins associated with autophagy, while male amniotic fluid cells expressed more proteins associated with lysosomes.
Article
Genetics & Heredity
Margherita Ruoppolo, Sabrina Malvagia, Sara Boenzi, Carla Carducci, Carlo Dionisi-Vici, Francesca Teofoli, Alberto Burlina, Antonio Angeloni, Tommaso Aronica, Andrea Bordugo, Ines Bucci, Marta Camilot, Maria Teresa Carbone, Roberta Cardinali, Claudia Carducci, Michela Cassanello, Cinzia Castana, Chiara Cazzorla, Renzo Ciatti, Simona Ferrari, Giulia Frisso, Silvia Funghini, Francesca Furlan, Serena Gasperini, Vincenza Gragnaniello, Chiara Guzzetti, Giancarlo La Marca, Luisa La Spina, Tania Lore, Concetta Meli, MariaAnna Messina, Amelia Morrone, Francesca Nardecchia, Rita Ortolano, Giancarlo Parenti, Enza Pavanello, Damiana Pieragostino, Sara Pillai, Francesco Porta, Francesca Righetti, Claudia Rossi, Valentina Rovelli, Alessandro Salina, Laura Santoro, Pina Sauro, Maria Cristina Schiaffino, Simonetta Simonetti, Monica Vincenzi, Elisabetta Tarsi, Anna Paola Uccheddu
Summary: Newborn screening for inborn errors of metabolism is an advanced tool for early diagnosis and treatment initiation. Italy introduced expanded newborn screening in 2016-2017 and collected data from 15 Italian screening laboratories. Aminoacidemias were the most common inborn errors, and second-tier tests were effective in reducing false positives. The screening also identified conditions related to maternal deficiencies.
INTERNATIONAL JOURNAL OF NEONATAL SCREENING
(2022)
Review
Pediatrics
Vincenza Gragnaniello, Federica Deodato, Serena Gasperini, Maria Alice Donati, Clementina Canessa, Simona Fecarotta, Antonia Pascarella, Giuseppe Spadaro, Daniela Concolino, Alberto Burlina, Giancarlo Parenti, Pietro Strisciuglio, Agata Fiumara, Roberto Della Casa
Summary: This study reviews the current literature on management of immune responses to ERT in c-IOPD, summarizing the advantages and disadvantages of treatment protocols, and providing expert recommendations. However, further research is needed to improve current management protocols.
ITALIAN JOURNAL OF PEDIATRICS
(2022)
Article
Biochemistry & Molecular Biology
Roberta Iacono, Nadia Minopoli, Maria Carmina Ferrara, Antonietta Tarallo, Carla Damiano, Caterina Porto, Sandra Strollo, Veronique Roig-Zamboni, Gianfranco Peluso, Gerlind Sulzenbacher, Beatrice Cobucci-Ponzano, Giancarlo Parenti, Marco Moracci
Summary: Pompe disease is a genetic metabolic disorder caused by a deficiency of lysosomal acid alpha-glucosidase (GAA). The approved treatment is enzyme replacement therapy with rhGAA. Recent discovery of novel chaperones such as L- and D-carnitine and acetyl-D-carnitine has shown promising synergistic effects with rhGAA in enhancing enzyme activity in Pompe patients' fibroblasts.
JOURNAL OF ENZYME INHIBITION AND MEDICINAL CHEMISTRY
(2021)
