Article
Genetics & Heredity
Poonnada Jiraanont, Esther Manor, Nazi Tabatadze, Marwa Zafarullah, Guadalupe Mendoza, Gia Melikishvili, Flora Tassone
Summary: Fragile X syndrome is the most common cause of X-linked inherited intellectual disabilities and the most frequent monogenic form of autism spectrum disorders. It is caused by CGG trinucleotide repeat expansion in the FMR1 gene, leading to the absence of the fragile X mental retardation protein, FMRP. Other mechanisms such as deletions or point mutations of the FMR1 gene can also cause fragile X syndrome.
FRONTIERS IN GENETICS
(2022)
Article
Clinical Neurology
Marina P. Hommersom, Teije H. van Prooije, Maartje Pennings, Meyke Schouten, Hans van Bokhoven, Erik-Jan Kamsteeg, Bart P. C. van de Warrenburg
Summary: Variants in the CACNA1A gene can lead to various phenotypes beyond the classic ataxia-related disorders, presenting challenges in neurogenetic diagnostics. Accessible functional read-outs are crucial for cases with non-classic phenotypes.
JOURNAL OF NEUROLOGY
(2022)
Article
Neurosciences
Maria A. Gandini, Ivana A. Souza, Laurent Ferron, A. Micheil Innes, Gerald W. Zamponi
Summary: Pathogenic variants in CACNA1A gene are associated with various neurological disorders, including familial hemiplegic migraine, cerebellar conditions, and early onset developmental encephalopathies. Patients with such variants exhibit symptoms such as headaches, motor impairments, and developmental delays. The mutation site in the CaV2.1 channel's S5 segment leads to loss of channel function and structural damage.
Article
Cell Biology
Qingling Yang, Hui Li, Huan Wang, Wenhui Chen, Xinxin Zeng, Xiaoyan Luo, Jianmin Xu, Yingpu Sun
Summary: Recent research has emphasized the significant role of NAD(+) in ovarian aging. However, the impact of de novo NAD(+) biosynthesis on ovarian aging is still unknown. This study demonstrates that genetic ablation of Ido1 or Qprt, critical genes in de novo NAD(+) biosynthesis, leads to decreased ovarian NAD(+) levels in middle-aged mice, resulting in subfertility, irregular estrous cycles, reduced ovarian reserve, and accelerated aging. Additionally, impaired oocyte quality and mitochondrial metabolism were observed in mutant mice, but supplementation with nicotinamide riboside improved these reproductive outcomes.
Article
Pediatrics
Li-Ping Zhang, Yu Jia, Yu-Ping Wang
Summary: The study investigated the clinical manifestations and genotypes of four pediatric PTU patients in China, finding that they all had onset at early infancy and presented as binocular upward gaze, two of whom carried novel de novo variants in the CACNA1A gene. It is suggested that patients with infantile-onset paroxysmal binocular upward gaze should be considered for a diagnosis of PTU.
FRONTIERS IN PEDIATRICS
(2021)
Article
Clinical Neurology
Giacomo Baso, Francesco Mele, Elda Del Giudice, Alberta Leon, Leonardo Pantoni
Summary: This article reports a patient with familial hemiplegic migraine type 1, whose clinical history is consistent with hemiplegic migraine, and genetic testing revealed a variant in the CACNA1A gene. MRI showed extensive leukoencephalopathy, suggestive of small vessel disease, progressing over the years. Exome sequencing identified a heterozygous variant c.6601C>T (p.Arg2201Trp) in the CACNA1A gene.
NEUROLOGICAL SCIENCES
(2023)
Article
Clinical Neurology
Mattia Siciliano, Rosa De Micco, Andrea Gerardo Russo, Fabrizio Esposito, Valeria Sant'Elia, Lucia Ricciardi, Francesca Morgante, Antonio Russo, Jennifer G. Goldman, Carlo Chiorri, Gioacchino Tedeschi, Luigi Trojano, Alessandro Tessitore
Summary: This study identified three distinct memory-related phenotypes in patients with mild cognitive impairment related to Parkinson's disease (PD-MCI) through cluster analysis. These phenotypes were associated with motor and non-motor features as well as patients' quality of life. The findings contribute to understanding the pathophysiological mechanisms underlying PD-MCI and its subtypes and guiding appropriate treatments.
MOVEMENT DISORDERS
(2023)
Article
Clinical Neurology
Chiara Scoppola, Giorgio Magli, Marta Conti, Maria Fadda, Giovanni M. Luzzu, Delia M. Simula, Alessandra Carta, Stefano Sotgiu, Susanna Casellato
Summary: This case report describes a girl with GLUT1-DS, presenting with a mild phenotype and hemiplegic migraine due to a CACNA1A mutation. Genetic testing played a crucial role in confirming the diagnosis and guiding the specific pharmacotherapy in this patient.
FRONTIERS IN NEUROLOGY
(2021)
Review
Clinical Neurology
Crystal J. J. Jicha, Ashley Alex, Steven Herskovitz, Sheryl R. R. Haut, Richard Lipton
Summary: This study demonstrates that a known CACNA1A variant is associated with a phenotype of prolonged aphasic aura without hemiparesis. The findings expand the phenotypic spectrum of the CACNA1A mutation and FHM to include this specific phenotype.
Article
Clinical Neurology
Elisabetta Indelicato, Cecilia Raccagni, Sarah Runer, Julius Hannink, Wolfgang Nachbauer, Andreas Eigentler, Matthias Amprosi, Gregor Wenning, Sylvia Boesch
Summary: Gait disturbances are common symptoms in CACNA1A disorders, but there is a lack of data about their severity and progression. A gait assessment protocol was applied to patients with confirmed CACNA1A disorders, revealing specific gait signatures that distinguish these patients from others. Instrumented gait analysis with wearable sensors may be useful for monitoring neurological fluctuations associated with CACNA1A disorders.
JOURNAL OF NEUROLOGY
(2022)
Article
Genetics & Heredity
Marco Fabiani, Francesco Libotte, Katia Margiotti, Dina Khader Issa Tannous, Davide Sparacino, Maria Pia D'Aleo, Francesca Monaco, Claudio Dello Russo, Alvaro Mesoraca, Claudio Giorlandino
Summary: Agnathia-otocephaly complex (AOC) is a rare and usually lethal malformation characterized by mandibular hypoplasia, ear displacement, ear fusion, small oral aperture, and more. Its etiology can be genetic or teratogenic, and certain genes such as OTX2 and PRRX1 have been linked to this condition. This article presents a case of severe AOC in a fetus with a novel deletion mutation in the OTX2 gene.
Review
Genetics & Heredity
Donna Schaare, Sara M. Sarasua, Laina Lusk, Shridhar Parthasarathy, Liangjiang Wang, Ingo Helbig, Luigi Boccuto
Summary: This study describes the clinical and genetic features of a 12-year-old boy with two congenital calcium channelopathies involving CACNA1A and CACNA1F genes, and provides insight into the natural history of sporadic hemiplegic migraine type 1 (SHM1). The patient presents with various symptoms such as vomiting, hemiplegia, cerebral edema, seizure, fever, transient blindness, and encephalopathy. This research contributes to a better understanding of this complex disorder and emphasizes the need for comprehensive clinical assessments of SHM1.
Article
Genetics & Heredity
Hua-Ying Xiong, Yong-Qi Shi, Cheng Zhong, Qin Yang, Gaofu Zhang, Haiping Yang, Daoqi Wu, Yaxi Chen, Qiu Li, Mo Wang
Summary: This study aimed to further understand the clinical manifestations and genetic characteristics of PAX2 variants in Chinese children. The findings revealed that PAX2 variants can lead to early onset kidney dysplasia and ocular abnormalities in affected individuals. Additionally, some patients exhibited unique manifestations and comorbidities, and three previously unidentified variants were reported.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Dana Jaber, Cyril Gitiaux, Sophie Blesson, Florent Marguet, David Buard, Maritzaida Varela Salgado, Anna Kaminska, Julien Saada, Catherine Fallet-Bianco, Jelena Martinovic, Annie Laquerriere, Judith Melki
Summary: We report pathogenic heterozygous missense de novo variants in SCN1A in three unrelated individuals with AMC. These variants are newly occurring, demonstrating the critical role of SCN1A in prenatal motor development. Lack of motor denervation in affected individuals suggests that AMC is caused by brain involvement.
JOURNAL OF MEDICAL GENETICS
(2021)
Article
Genetics & Heredity
Zerin Hyder, Adele Fairclough, Mike Groom, Joan Getty, Elizabeth Alexander, Elke M. van Veen, Guy Makin, Chitra Sethuraman, Vivian Tang, D. Gareth Evans, Eamonn R. Maher, Emma R. Woodward
Summary: The role of constitutional deletion CNVs in nephroblastomatosis is highlighted in this study, with a particular focus on a delCNV encompassing the REST tumor suppressor gene. Deletion studies involving known cancer predisposition genes can provide insights into the relationship between genomic architecture and associated tumor risk.
JOURNAL OF MEDICAL GENETICS
(2021)
Review
Biochemistry & Molecular Biology
Federica Rey, Letizia Messa, Erika Maghraby, Giovanna Casili, Sara Ottolenghi, Bianca Barzaghini, Manuela Teresa Raimondi, Cristina Cereda, Salvatore Cuzzocrea, Gianvincenzo Zuccotti, Emanuela Esposito, Irene Paterniti, Stephana Carelli
Summary: Oxygen (O-2) sensing plays a crucial role in the pathogenesis of neurodegenerative diseases (NDs) such as Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis. Common pathways related to O-2 imbalance include hypoxia, hyperoxia, reactive oxygen species production, metabolism of metals, protein misfolding, and neuroinflammation.
ANTIOXIDANTS & REDOX SIGNALING
(2023)
Article
Medical Laboratory Technology
Simona Ferraro, Davide Biganzoli, Roberta Simona Rossi, Franco Palmisano, Marco Bussetti, Enrica Verzotti, Andrea Gregori, Filippo Bianchi, Marco Maggioni, Ferruccio Ceriotti, Cristina Cereda, Gianvincenzo Zuccotti, Peter Kavsak, Mario Plebani, Giuseppe Marano, Elia Mario Biganzoli
Summary: Two nomograms were developed to predict the individual risk of high and low grade prostate cancer (PCa) based on tPSA and %f/tPSA. These nomograms can assist in the decision-making process and enhance the diagnostic capability for patients with ISUP >= 3.
CLINICAL CHEMISTRY AND LABORATORY MEDICINE
(2023)
Letter
Medical Laboratory Technology
Simona Ferraro, Cristina Cereda, Gianvincenzo Zuccotti, Elia Mario Biganzoli
CLINICAL CHEMISTRY AND LABORATORY MEDICINE
(2023)
Article
Clinical Neurology
Eleonora Bonaventura, Luisella Alberti, Simona Lucchi, Laura Cappelletti, Salvatore Fazzone, Elisa Cattaneo, Matteo Bellini, Giana Izzo, Cecilia Parazzini, Alessandra Bosetti, Elisabetta Di Profio, Giulia Fiore, Matilde Ferrario, Chiara Mameli, Arianna Sangiorgio, Silvia Masnada, Gian Vincenzo Zuccotti, Pierangelo Veggiotti, Luigina Spaccini, Maria Iascone, Elvira Verduci, Cristina Cereda, Davide Tonduti
Summary: X-linked adrenoleukodystrophy (X-ALD) is a common genetic disorder caused by variants in the ABCD1 gene. Early diagnosis and treatment can improve patient outcomes and increase survival rates.
FRONTIERS IN NEUROLOGY
(2023)
Article
Medical Laboratory Technology
Simona Ferraro, Cristina Cereda, Gianvincenzo Zuccotti, Santica Marcovina, Mario Plebani, Elia Mario Biganzoli
Summary: The aim of this paper is to explore the practical application of laboratory results in the decision-making process for improving healthcare outcomes, through the collaboration between laboratory professionals and experts in econometric, bioinformatics, and biostatistics. The content focuses on the effectiveness of biomarkers, analytical challenges, lack of result harmonization, and factors limiting healthcare effectiveness in clinical chemistry and newborn screening tests.
CLINICAL CHEMISTRY AND LABORATORY MEDICINE
(2023)
Article
Immunology
Jessica Garau, Amandine Charras, Costanza Varesio, Simona Orcesi, Francesca Dragoni, Jessica Galli, Elisa Fazzi, Stella Gagliardi, Orietta Pansarasa, Cristina Cereda, Christian M. Hedrich
Summary: This study investigated DNA methylation signatures in AGS patients to understand phenotypic heterogeneity. Hypomethylation of ISGs and differential methylation patterns in genes involved in neutrophil and platelet activation were observed. Patients with mild phenotypes had differential methylation patterns in genes involved in DNA damage and repair, while patients with severe phenotypes had differential methylation patterns in genes associated with cell fate commitment and organ development. DMPs in two ISGs (IFI44L, RSAD2) were associated with increased gene expression in severe cases compared to mild cases. Altered DNA methylation and ISG expression can be potential biomarkers and treatment targets in AGS.
CLINICAL IMMUNOLOGY
(2023)
Article
Genetics & Heredity
Marianna Farne, Fernanda Fortunato, Marcella Neri, Matteo Farne, Cristina Balla, Emilio Albamonte, Andrea Barp, Annarita Armaroli, Enrica Perugini, Valeria Carinci, Marco Facchini, Luca Chiarini, Valeria A. Sansone, Sofia Straudi, Valeria Tugnoli, Elisabetta Sette, Mariachiara Sensi, Matteo Bertini, Teresinha Evangelista, Alessandra Ferlini, Francesca Gualandi
Summary: Telemedicine is an important tool for the management of rare and fragile patients, and is supported by the European Reference Networks (ERNs). TeleNewCARe evaluated the effectiveness and satisfaction of telegenetics for neuromuscular and cardiac adult patients, compared to face-to-face genetic counseling. The study found that telecounseling was just as effective and satisfactory as traditional counseling.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2023)
Article
Oncology
Claudia De Vitis, Anna Martina Battaglia, Matteo Pallocca, Gianluca Santamaria, Maria Chiara Mimmi, Alessandro Sacco, Francesca De Nicola, Marco Gaspari, Valentina Salvati, Francesca Ascenzi, Sara Bruschini, Antonella Esposito, Giulia Ricci, Eleonora Sperandio, Alice Massacci, Licia Elvira Prestagiacomo, Andrea Vecchione, Alberto Ricci, Salvatore Sciacchitano, Gerardo Salerno, Deborah French, Ilenia Aversa, Cristina Cereda, Maurizio Fanciulli, Ferdinando Chiaradonna, Egle Solito, Giovanni Cuda, Francesco Costanzo, Gennaro Ciliberto, Rita Mancini, Flavia Biamonte
Summary: This study reveals that the transition from 2D to 3D culture in lung adenocarcinoma and breast cancer cells leads to significant metabolic reprogramming, including increased lactate production and enhanced glucose consumption. Transfection with siRNA against specific genes reduces lactate production, viability, and size of 3D tumor spheroids.
JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH
(2023)
Article
Neurosciences
Federica Rey, Erika Maghraby, Letizia Messa, Letizia Esposito, Bianca Barzaghini, Cecilia Pandini, Matteo Bordoni, Stella Gagliardi, Luca Diamanti, Manuela Teresa Raimondi, Massimiliano Mazza, Gianvincenzo Zuccotti, Stephana Carelli, Cristina Cereda
Summary: Multiple deregulated lncRNAs have been found in the tissues of sALS patients, among which the oncogenic lncRNA ZEB1-AS1 is significantly downregulated in peripheral blood mononuclear cells. It has been discovered that ZEB1-AS1 plays a crucial role in neuronal differentiation and may be associated with β-Catenin signaling and alterations in neuronal phenotype.
NEUROBIOLOGY OF DISEASE
(2023)
Article
Engineering, Biomedical
Bianca Barzaghini, Stephana Carelli, Letizia Messa, Federica Rey, Maria Antonietta Avanzini, Emanuela Jacchetti, Erika Maghraby, Clarissa Berardo, Gianvincenzo Zuccotti, Manuela Teresa Raimondi, Cristina Cereda, Valeria Calcaterra, Gloria Pelizzo
Summary: Mesenchymal stem cells (MSCs) show promise as a source for stem cell therapies in pediatric respiratory diseases. Using a 3D micro-scaffold called Nichoid, the anti-inflammatory potential of MSCs can be enhanced through mechanical stimulation, overcoming limitations of biochemical and xenogenic growth factors.
REGENERATIVE ENGINEERING AND TRANSLATIONAL MEDICINE
(2023)
Article
Endocrinology & Metabolism
Simona De Angelis, Emanuela Medda, Daniela Rotondi, Maria Masocco, Valentina Minardi, Benedetta Contoli, Valentina Possenti, Angela Sorbo, Marilena D'Amato, Anna Chiara Turco, Alberto Augusto Pastorelli, Paolo Stacchini, Roberto Da Cas, Marcello Bagnasco, Daniela Bonofiglio, Maurizio Gasperi, Domenico Meringolo, Caterina Mian, Mariacarla Moleti, Francesco Vermiglio, Efisio Puxeddu, Augusto Taccaliti, Massimo Tonacchera, Salvatore Ulisse, Antonio Dimida, Teresa Rago, Elena Nazzari, Mara Schiavo, Irene Bossert, Giacomo Sturniolo, Carlo Corbetta, Cristina Cereda, Laura Cappelletti, Marta Camilot, Francesca Teofoli, Renzo Ciatti, Elisabetta Tarsi, Nicola Perrotti, Onorina Marasco, Giovanna Scozzafava, Francesca Righetti, Sebastiano Ando, Stefania Catalano, Mariarosaria Cristofaro, Giovanni Sorrenti, Simona Censi, Silvia Morelli, Enke Baldini, Giuseppe Plutino, Roberto Copparoni, Elena Alonzo, Claudia Giacomozzi, Marco Silano, Antonella Olivieri
Summary: This study evaluated the efficiency and adverse effects of the iodine prophylaxis program in Italy. The results showed that Italy has achieved iodine sufficiency through the program, but there are still concerns about iodine nutritional status during pregnancy.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Engineering, Biomedical
Francesca Donnaloja, Manuela Teresa Raimondi, Letizia Messa, Bianca Barzaghini, Federica Carnevali, Emanuele Colombo, Davide Mazza, Chiara Martinelli, Lucia Boeri, Federica Rey, Cristina Cereda, Roberto Osellame, Giulio Cerullo, Stephana Carelli, Monica Soncini, Emanuela Jacchetti
Summary: Mechanical stimuli from the extracellular environment affect cell morphology and functionality. The use of a custom-made 3D microscaffold, called the Nichoid, for cultivating mesenchymal stem cells (MSCs) has been shown to enhance the expression of stemness markers. This device appears to regulate gene activity by altering intracellular force transmission. The findings suggest that the Nichoid can influence MSC behavior and gene regulation through mechanical manipulation.
APL BIOENGINEERING
(2023)
Meeting Abstract
Biochemistry & Molecular Biology
Alessia Mauri, Alessandra Duse, Sara Olivotto, Stefania Bova, Pierangelo Veggiotti, Cristina Cereda
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Meeting Abstract
Cell & Tissue Engineering
Bianca Barzaghini, Letizia Messa, Federica Rey, Maria Antonietta Avanzini, Emanuela Jacchetti, Erika Maghrabys, Clarissa Berardo, Gianvincenzo Zuccotti, Cristina Cereda, Valeria Calcaterra, Gloria Pelizzo, Manuela Teresa Raimondi, Stephana Carelli
TISSUE ENGINEERING PART A
(2023)
Meeting Abstract
Cell & Tissue Engineering
Bianca Barzaghini, Letizia Messa, Federica Rey, Francesca Fanizza, Maria Antonella Sforazzini, Letizia Esposito, Gianvincenzo Zuccotti, Cristina Cereda, Roberto Osellame, Giulio Cerullo, Emanuela Jacchetti, Stephana Carelli, Manuela Teresa Raimondi
TISSUE ENGINEERING PART A
(2023)