Article
Medicine, General & Internal
Linlin Meng, Ran Zhang, Liangguo Fa, Lulu Zhang, Linlin Wang, Guangrui Shao
Summary: The study aimed to develop a noninvasive radiomics analysis model based on preoperative multiparameter MRI to predict the status of the biomarker ATRX in glioma noninvasively. Radiomic features were extracted from MR images and a radiomics signature was constructed using LASSO logistic regression model. The model showed high prediction accuracy in both the training and validation sets.
Article
Medicine, General & Internal
Chao Ma, Liyang Wang, Dengpan Song, Chuntian Gao, Linkai Jing, Yang Lu, Dongkang Liu, Weitao Man, Kaiyuan Yang, Zhe Meng, Huifang Zhang, Ping Xue, Yupeng Zhang, Fuyou Guo, Guihuai Wang
Summary: This study aimed to develop a non-invasive machine learning model to assist doctors in identifying the grade and mutation status of intramedullary gliomas. The results showed that the proposed model could predict the molecular marker status and grade of intramedullary gliomas, providing more pathological information for the treatment and prognosis of these tumors.
Review
Genetics & Heredity
Nayla Y. Leon, Vincent R. Harley
Summary: ATR-X syndrome, characterized by intellectual disability, is caused by germline variants in the ATRX gene. Recent advancements in molecular technologies have detected more subtle mutations and non-classic phenotypes, suggesting a shift towards molecular-based diagnosis and a broader understanding of the syndrome's manifestations.
Article
Endocrinology & Metabolism
Olivera Casar-Borota, Henning Bunsow Boldt, Britt Eden Engstrom, Marianne Skovsager Andersen, Bertrand Baussart, Daniel Bengtsson, Katarina Berinder, Bertil Ekman, Ulla Feldt-Rasmussen, Charlotte Hoybye, Jens Otto L. Jorgensen, Anders Jensen Kolnes, Marta Korbonits, Ase Krogh Rasmussen, John R. Lindsay, Paul Benjamin Loughrey, Dominique Maiter, Emilija Manojlovic-Gacic, Jens Pahnke, Pietro Luigi Poliani, Vera Popovic, Oskar Ragnarsson, Camilla Schalin-Jantti, David Scheie, Miklos Toth, Chiara Villa, Martin Wirenfeldt, Jacek Kunicki, Pia Burman
Summary: ATRX mutations are common in a subset of aggressive pituitary tumors, particularly in corticotroph tumors. Performing ATRX immunohistochemistry can help identify patients at risk of developing aggressive and potentially metastatic pituitary tumors.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Biochemistry & Molecular Biology
Iris Schaeffner, Marie-Theres Wittmann, Tanja Vogel, D. Chichung Lie
Summary: The transcription factor FOXG1 plays important roles in brain development, and its dosage is crucial for proper neuronal development. High levels of FOXG1 disrupt the survival and fate acquisition of glutamatergic neurons in the hippocampus, but do not affect neurogenesis of GABAergic neurons in the subependymal zone/olfactory bulb system. Interfering with the function of the apoptosis-linked nuclear receptor Nr4a1 rescues FOXG1-dependent death of hippocampal progenitors.
MOLECULAR PSYCHIATRY
(2023)
Article
Biochemistry & Molecular Biology
Mohamed S. Taha, Fereshteh Haghighi, Anja Stefanski, Saeideh Nakhaei-Rad, Neda S. Kazemein Jasemi, Mhd Aghyad Al Kabbani, Boris Goerg, Masahiro Fujii, Phillip A. Lang, Dieter Haeussinger, Roland Piekorz, Kai Stuehler, Mohammad Reza Ahmadian
Summary: The study found that FMRP interacts with a wide range of proteins, suggesting its involvement in multiple cellular processes, particularly under stress conditions. This indicates the important role of FMRP in cells, especially during stress.
Article
Genetics & Heredity
D. L. Polla, E. J. Bhoj, J. B. G. M. Verheij, J. S. Klein Wassink-Ruiter, A. Reis, C. Deshpande, A. Gregor, K. Hill-Karfe, A. T. Vulto-van Silfhout, R. Pfundt, E. M. H. F. Bongers, H. Hakonarson, S. Berland, G. Gradek, S. Banka, K. Chandler, L. Gompertz, S. C. Huffels, C. T. R. M. Stumpel, R. Wennekes, A. P. A. Stegmann, W. Reardon, E. K. S. M. Leenders, B. B. A. de Vries, D. Li, E. Zackai, N. Ragge, S. A. Lynch, S. Cuddapah, H. van Bokhoven, C. Zweier, A. P. M. de Brouwer
Summary: The study identified that females with de novo variants in MED12 exhibit variable neurodevelopmental disorders, with protein truncating variants leading to a syndromic phenotype including intellectual disability, facial dysmorphism, and other abnormalities, while de novo missense variants resulted in a severe yet less specific phenotype with features like severe intellectual disability and autistic traits.
GENETICS IN MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Madison Edwards, Simpson Joseph
Summary: Fragile X Syndrome and certain manifestations of autism spectrum disorder are caused by improper RNA regulation due to a deficiency of fragile X mental retardation protein (FMRP). Fragile X related proteins (FXPs) play a crucial role in mRNA regulation and potential mRNA targets. This study investigated the function of FXPs in translational control using three potential mRNA targets, analyzing the binding site(s) of FXPs within the mRNA and their impact on translation.
JOURNAL OF MOLECULAR BIOLOGY
(2022)
Article
Neurosciences
Randall M. Golovin, Jacob Vest, Kendal Broadie
Summary: The study reveals that FMRP controls the synaptic remodeling of olfactory sensory neurons in neuron-specific circuits during critical periods. Additionally, neural circuits can compensate for global FMRP loss to reinstate normal critical period brain circuit remodeling.
JOURNAL OF NEUROSCIENCE
(2021)
Article
Genetics & Heredity
Maria Arvio, Jaana Lahdetie
Summary: The patient, a 45-year-old man with severe form of alpha-thalassemia X-linked intellectual disability syndrome, has been followed for 40 years. The most challenging health issue for him is the combination of rumination, drooling, and vomiting. While exhibiting some new signs like accelerated growth after puberty and atypical sleeping position, he appears happy and has not shown any behavioral or psychiatric symptoms.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Multidisciplinary Sciences
Sukanya Chumchuen, Orapan Sripichai, Natee Jearawiriyapaisarn, Suthat Fucharoen, Chayanon Peerapittayamongkol, Michela Grosso
Summary: Imbalanced globin chain output is important in thalassemia pathophysiology. Induction of fetal hemoglobin through targeting HBS1L shows promising therapeutic potential in beta-thalassemia patients by upregulating gamma-globin mRNA and increasing the percentage of fetal hemoglobin.
Article
Multidisciplinary Sciences
Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha, Joanna Kaplanis, Nadia Akawi, Alejandro Sifrim, Ruth Y. Eberhardt, Ana Lisa Taylor Tavares, Matthew D. C. Neville, Mari E. K. Niemi, Giuseppe Gallone, Jeremy McRae, Caroline F. Wright, David R. FitzPatrick, Helen V. Firth, Matthew E. Hurles
Summary: The burden of X-linked coding variants in developmental disorders is similar in both males and females, indicating that the 1.4-fold male bias in DDs is not solely explained by X-linked causes. Statistical analysis of large datasets can refine our understanding of the inheritance modes for individual X-linked disorders.
NATURE COMMUNICATIONS
(2021)
Article
Pediatrics
Xin Xu, Fen Lu, Li Zhang, Hongying Li, Senjie Du, Jian Tang
Summary: In this study, a 3-year-old Chinese girl with intellectual disability and brain abnormalities was found to carry a novel pathogenic variant of the CLCN4 gene through whole exome sequencing. This expands the phenotype spectrum of CLCN4 variants in intellectual disability, improving understanding of CLCN4-related disorders and providing valuable information for genetic counselling in affected families.
Article
Biochemistry & Molecular Biology
Taro Chaya, Hiroshi Ishikane, Leah R. Varner, Yuko Sugita, Yamato Maeda, Ryotaro Tsutsumi, Daisuke Motooka, Daisuke Okuzaki, Takahisa Furukawa
Summary: The study found that variants in the CYFIP2 gene may lead to early-onset epileptic encephalopathy, developmental delay, and intellectual disability. Deficiency in Cyfip2 affects retinal and visual functions, impairing visual function at the organismal level.
HUMAN MOLECULAR GENETICS
(2022)
Article
Multidisciplinary Sciences
Rattanawan Thubthed, Sirikwan Siriworadetkun, Kittiphong Paiboonsukwong, Suthat Fucharoen, Kovit Pattanapanyasat, Jim Vadolas, Saovaros Svasti, Pornthip Chaichompoo
Summary: This study found that neutrophil dysfunction, including neutrophil extracellular trap (NET) formation, contributes to increased susceptibility to severe bacterial infection in beta-thalassaemia/HbE patients. The impaired development of late-phase NETs in splenectomised patients may lead to higher susceptibility to bacterial infection.
SCIENTIFIC REPORTS
(2022)
Article
Medicine, General & Internal
Michele Salemi, Filomena Cosentino, Giuseppe Lanza, Mariagiovanna Cantone, Maria Grazia Salluzzo, Giorgio Giurato, Eugenia Borgione, Giovanna Marchese, Sandro Santa Paola, Bartolo Lanuzza, Corrado Romano, Raffaele Ferri
Summary: Parkinson's disease (PD) is a neurodegenerative disorder characterized by the accumulation of α-synuclein and loss of dopaminergic neurons. Mitochondrial dysfunction is involved in PD pathogenesis. This study investigated the mRNA expression of mitochondrial subunits in PD patients and found significant over-expression compared to normal controls.
ARCHIVES OF MEDICAL SCIENCE
(2023)
Article
Medicine, General & Internal
Venera Tomaselli, Pietro Ferrara, Giulio G. Cantone, Alba C. Romeo, Sonja Rust, Daniela Saitta, Filippo Caraci, Corrado Romano, Murugesan Thangaraju, Pietro Zuccarello, Jed Rose, Margherita Ferrante, Jonathan Belsey, Fabio Cibella, Grazia Caci, Raffaele Ferri, Riccardo Polosa
Summary: The study found a lower proportion of positive SARS-CoV-2 serology among current smokers, using direct laboratory measures of tobacco exposure and thus avoiding possible bias associated with self-reported smoking status. Results may also serve as a reference for future clinical research on potential pharmaceutical role of nicotine or nicotinic-cholinergic agonists against COVID-19.
INTERNAL AND EMERGENCY MEDICINE
(2022)
Review
Genetics & Heredity
Orsetta Zuffardi, Marco Fichera, Maria Clara Bonaglia
Summary: De novo distal deletions are common structural variants that may cause issues with embryo survival. The study found that U-type mirror dicentrics are a major cause of various types of de novo unbalanced rearrangements. The study also found that dicentrics of paternal origin are more prevalent and primarily occur during spermatogenesis.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2022)
Article
Anatomy & Morphology
Morgana D'Amico, Elisabetta Di Franco, Elena Cerutti, Vincenza Barresi, Daniele Condorelli, Alberto Diaspro, Luca Lanzano
Summary: Confocal fluorescence microscopy is a well-established imaging technique for generating thin optical sections of biological specimens. This study presents a simple method, called SPLIT-PIN, to achieve virtual confocal imaging at smaller pinhole sizes without compromising signal-to-noise ratio (SNR). The method involves sequential acquisition of multiple confocal images at different pinhole sizes and image processing based on phasor analysis, which improves imaging quality.
MICROSCOPY RESEARCH AND TECHNIQUE
(2022)
Review
Biochemistry & Molecular Biology
Vincenza Barresi, Camillo Musmeci, Alessandro Rinaldi, Daniele Filippo Condorelli
Summary: The development of novel target therapies based on RNA interference and antisense oligonucleotides is growing rapidly. These therapies have the potential to selectively target RNA, treating genetic diseases and cancer. They can remove defective proteins, arrest mRNA translation, or reactivate modified functional proteins, ultimately improving biochemical/physiological conditions and quality of life.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Lucia Longhitano, Giuseppe Broggi, Sebastiano Giallongo, Maria Failla, Lidia Puzzo, Teresio Avitabile, Daniele Tibullo, Alfio Distefano, Valeria Pittala, Michele Reibaldi, Guido Nicola Zanghi, Antonio Longo, Andrea Russo, Rosario Caltabiano, Giovanni Li Volti, Nicolo Musso
Summary: The study revealed the important role of HO-1 in regulating uveal melanoma progression, with an increase of HO-1 promoting cellular proliferation and wound healing ability of tumor cells, suggesting HO-1 protein expression may serve as a potential prognostic and therapeutic factor in UM patients.
Article
Biochemistry & Molecular Biology
Anna Andrioli, Paolo Francesco Fabene, Giuseppa Mudo, Vincenza Barresi, Valentina Di Liberto, Monica Frinchi, Marina Bentivoglio, Daniele Filippo Condorelli
Summary: This study investigated the expression of neuronal Cx36 and astrocytic Cx30 and Cx43 mRNAs in the brain of rats after pilocarpine-induced status epilepticus (SE). The results showed a significant decrease in Cx43 and Cx30 mRNA levels 24 hours after SE onset in certain brain regions, indicating a potential protective response of neuroglial networks to SE-induced acute damage.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Education, Special
Carmela Scuderi, Sandro Santa Paola, Mariangela Lo Giudice, Francesco Domenico Di Blasi, Stefania Giusto, Giuseppa Di Vita, Rosa Pettinato, Girolamo Aurelio Vitello, Corrado Romano, Serafino Buono, Vincenzo Salpietro, Henry Houlden, Eugenia Borgione
Summary: This study aimed to identify mitochondrial dysfunction due to mtDNA variants in 19 selected subjects with ASD and clinical features of mitochondrial disease. The results showed that 79% of the patients had myogenic or neurogenic changes in the histological examination, 58% had lipid accumulation, mitochondrial proliferation, and COX-deficient fibers. Biochemical investigations revealed impairments involving one or more of the respiratory chain complexes in three patients. Genetic studies found multiple mtDNA deletions in one patient with normal histology and biochemistry, and different mtDNA point mutations in four patients.
RESEARCH IN AUTISM SPECTRUM DISORDERS
(2023)
Article
Biochemistry & Molecular Biology
Martina Miceli, Pinella Failla, Lucia Saccuzzo, Ornella Galesi, Silvestra Amata, Corrado Romano, Maria Clara Bonaglia, Marco Fichera
Summary: Individuals with 2p15p16.1 microdeletion syndrome exhibit a complex phenotype. The study identifies BCL11A, REL, USP34, and XPO1 as candidate genes. By considering non-penetrant deletions, the study provides a more accurate correlation between specific genomic segments and traits.
Article
Genetics & Heredity
Marco Salvatore, Paola Torreri, Graziano Grugni, Adele Rocchetti, Mohamad Maghnie, Giuseppa Patti, Antonino Crino, Maurizio Elia, Donatella Greco, Corrado Romano, Adriana Franzese, Enza Mozzillo, Annamaria Colao, Gabriella Pugliese, Uberto Pagotto, Valentina Lo Preiato, Emanuela Scarano, Concetta Schiavariello, Gianluca Tornese, Danilo Fintini, Sarah Bocchini, Sara Osimani, Luisa De Sanctis, Michele Sacco, Irene Rutigliano, Maurizio Delvecchio, Maria Felicia Faienza, Malgorzata Wasniewska, Domenico Corica, Stefano Stagi, Laura Guazzarotti, Pietro Maffei, Francesca Dassie, Domenica Taruscio
Summary: The Italian PWS registry was established to collect clinical and epidemiologic data, assess clinical management, improve patient care, and foster research. It includes six variables and provides important insights into the clinical aspects and natural history of PWS.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Article
Genetics & Heredity
Federica Saia, Adriana Prato, Lucia Saccuzzo, Francesca Madia, Rita Barone, Marco Fichera, Renata Rizzo
Summary: This study aimed to understand the molecular bases of Tourette syndrome (TS) in a large cohort of pediatric patients. Molecular analyses, including array-CGH analyses, were conducted to identify and compare copy number variations (CNVs) related to neurodevelopment and neuropsychiatric disorders. The study found a higher occurrence of rare deletions and duplications focusing on significant neurodevelopment genes in children with tics and additional comorbidities.
Article
Biochemistry & Molecular Biology
Giuseppe Caruso, Anna Privitera, Miriam Wissam Saab, Nicolo Musso, Salvatore Maugeri, Annamaria Fidilio, Anna Provvidenza Privitera, Alessandra Pittala, Renaud Blaise Jolivet, Luca Lanzano, Giuseppe Lazzarino, Filippo Caraci, Angela Maria Amorini
Summary: The activity of microglia plays a crucial role in various physiological processes and its imbalance can lead to neurodegenerative disorders. Carnosine, a naturally occurring molecule, has antioxidant and anti-inflammatory activities, and can modulate immune cell response and energy metabolism. Understanding microglia characteristics and their response to environmental challenges is important for therapeutic strategies.
Review
Biology
Eugenia Borgione, Mariangela Lo Giudice, Sandro Santa Paola, Marika Giuliano, Francesco Domenico Di Blasi, Vincenzo Di Stefano, Antonino Lupica, Filippo Brighina, Rosa Pettinato, Corrado Romano, Carmela Scuderi
Summary: This article describes a novel homoplasmic m.7484A>G mutation in the tRNA(Ser(UCN)) gene, leading to profound intellectual disability, spastic tetraplegia, sensorineural hearing loss, and typical clinical manifestations of MELAS syndrome in a girl. The same mutation was also found in the mother, causing mild cognitive deficit, cerebellar ataxia, myoclonic epilepsy, sensorineural hearing loss, and myopathy consistent with MERRF syndrome. This is the first anticodon mutation in the tRNA(Ser(UCN)) and the second homoplasmic mutation in the anticodon triplet reported to date.
Meeting Abstract
Biophysics
Morgana D'Amico, Elena Cerutti, Vincenza Barresi, Daniele Condorelli, Gaetano Ivan Dellino, Mario Faretta, Pier Giuseppe Pelicci, Alberto Diaspro, Luca Lanzano
BIOPHYSICAL JOURNAL
(2022)