Article
Biochemistry & Molecular Biology
Antonella Tramutola, Simona Lanzillotta, Giuseppe Aceto, Sara Pagnotta, Gabriele Ruffolo, Pierangelo Cifelli, Federico Marini, Cristian Ripoli, Eleonora Palma, Claudio Grassi, Fabio Di Domenico, Marzia Perluigi, Eugenio Barone
Summary: Down syndrome (DS) is associated with Alzheimer's disease (AD) and brain insulin resistance. The KYCCSRK peptide has shown potential for improving insulin signaling in DS and reducing AD-like neuropathology in mice.
Article
Clinical Neurology
Marzia Perluigi, Anna Picca, Elita Montanari, Riccardo Calvani, Federico Marini, Roberto Matassa, Antonella Tramutola, Alberto Villani, Giuseppe Familiari, Fabio Di Domenico, D. Allan Butterfield, Kenneth J. Oh, Emanuele Marzetti, Diletta Valentini, Eugenio Barone
Summary: The study found that nEVs isolated from DS children showed a significant increase in insulin resistance marker pIRS1(Ser636) and hyperactivation of the Akt/mTOR/p70S6K pathway downstream from IRS1, possibly driven by higher inhibition of PTEN. Additionally, high levels of pGSK3 beta(Ser9) were also observed. These alterations in the insulin-signaling/mTOR pathways are believed to be early events in the DS brain, contributing to the cognitive dysfunction and intellectual disability seen in this unique population.
ALZHEIMERS & DEMENTIA
(2022)
Article
Environmental Sciences
Luciana Ursumando, Elisa Fuca, Floriana Costanzo, Stefano Vicari
Summary: Individuals with intellectual disability are more susceptible to psychotic disorders. However, there is limited understanding of the manifestation of psychosis in this population. This study examined two cases of young women with intellectual disability and Down syndrome who developed a delusion of pregnancy. The findings suggest that the delusion may be related to cyclothymic disorder or delusional disorder, and external triggers may contribute to its emergence.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
(2022)
Article
Psychiatry
Mina Idris, Fedal Saini, Sarah E. Pape, R. Asaad Baksh, Marie-Stephanie Cahart, Andre Strydom
Summary: This study investigated the impact of CMDs on cognitive ability and clinical signs of Alzheimer's disease in individuals with Down syndrome. The results suggest that a diagnosis of CMDs does not have a significant negative effect on long-term cognitive or behavioral outcomes in these individuals.
Article
Biochemistry & Molecular Biology
Kristina Wardelmann, Michaela Rath, Jose Pedro Castro, Sabine Bluemel, Mareike Schell, Robert Hauffe, Fabian Schumacher, Tanina Flore, Katrin Ritter, Andreas Wernitz, Toru Hosoi, Koichiro Ozawa, Burkhard Kleuser, Jurgen Weiss, Annette Schurmann, Andre Kleinridders
Summary: Research indicates that reduced Hsp10 expression in the brains of type 2 diabetes mice is regulated by leptin in vitro. Decreased Hsp10 in hypothalamic cells leads to mitochondrial dysfunction and insulin resistance.
Article
Endocrinology & Metabolism
Dylan C. Sarver, Cheng Xu, Leandro M. Velez, Susan Aja, Andrew E. Jaffe, Marcus M. Seldin, Roger H. Reeves, G. William Wong
Summary: In this study, a comprehensive and systematic analysis was conducted on the Ts65Dn trisomic mouse model to investigate the impact of gene dosage imbalance on whole-body metabolism. The results revealed altered metabolic parameters, including increased locomotor activity and energy expenditure, decreased fasting serum cholesterol levels, and mild glucose intolerance, in chow-fed Ts65Dn mice. When challenged with a high-fat diet, obese Ts65Dn mice showed dyslipidemia and impaired insulin sensitivity, as well as changes in mitochondrial activity and gene signatures related to fibrosis and inflammation in the liver and adipose tissue. Systems-level analysis identified conserved pathways and potential endocrine drivers contributing to dysregulated glucose and lipid metabolism.
MOLECULAR METABOLISM
(2023)
Review
Biochemistry & Molecular Biology
Xue-Ying He, Carl Dobkin, William Ted Brown, Song-Yu Yang
Summary: 17 beta-HSD10 is a crucial protein for brain cognitive function. Mutations in this protein cause infantile neurodegeneration. Its binding capability to A beta-peptide may play a role in Alzheimer's disease but not in infantile neurodegeneration. Previous studies on ABAD should be reconsidered for HSD17B10 gene-related disorders research.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Colin C. Anderson, John O. Marentette, Kendra M. Prutton, Abhishek K. Rauniyar, Julie A. Reisz, Angelo D'Alessandro, Kenneth N. Maclean, Laura M. Saba, James R. Roede
Summary: Down syndrome patients show mitochondrial dysfunction and abnormal central carbon metabolism in fibroblast cells. Previous studies indicate that DS cells exhibit greater glucose dependency and flux into the oxidative phase of the pentose phosphate pathway.
FREE RADICAL BIOLOGY AND MEDICINE
(2021)
Review
Nutrition & Dietetics
Maria Stefania Spagnuolo, Susanna Iossa, Luisa Cigliano
Summary: Excessive fructose consumption may lead to obesity and metabolic diseases, as well as impact brain health by promoting neuroinflammation and oxidative stress, and causing insulin resistance.
Review
Neurosciences
Blandine Ponroy Bally, Keith K. Murai
Summary: Down Syndrome (DS) is the most common genetic cause of intellectual disability, traditionally focusing on neurons, but recent studies have highlighted the role of non-neuronal cells, especially astrocytes, in DS. Understanding the impact of trisomy 21 on astrocytes in DS may be crucial in determining specific brain alterations and neurological phenotypes in DS.
FRONTIERS IN CELLULAR NEUROSCIENCE
(2021)
Review
Neurosciences
Kirstin A. Risgaard, Isabella A. Sorci, Sruti Mohan, Anita Bhattacharyya
Summary: Neurodevelopmental impairment in individuals with Down syndrome leads to cognitive disability, which emerges during infancy and continues throughout life. Structural and histological information explaining these deficits is limited, hindering the design of effective therapeutic interventions. This systematic review highlights the lack of studies identifying cellular features underlying the morphological brain deficits in Down syndrome.
FRONTIERS IN CELLULAR NEUROSCIENCE
(2022)
Article
Education, Special
Emily K. Schworer, Ameena Ahmed, Lori Hogenkamp, Shelby Moore, Anna J. Esbensen
Summary: This study aimed to examine the association between medical conditions and cognition, language, and behavior in children and adolescents with Down syndrome. The results showed that participants with gastrointestinal issues had significantly more challenges with social behaviors, maladaptive behaviors, and executive function compared to those without gastrointestinal issues.
RESEARCH IN DEVELOPMENTAL DISABILITIES
(2022)
Article
Medicine, General & Internal
Angelika Buczynska, Iwona Sidorkiewicz, Slawomir Lawicki, Adam Jacek Kretowski, Monika Zbucka-Kretowska
Summary: The study found elevated levels of DNA/RNA oxidative stress damage products and asprosin, as well as decreased levels of vitamin D and A1AT in pregnancies with trisomy 21. Plasma asprosin demonstrated the highest screening utility for T21 prenatal screening.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Health Care Sciences & Services
Fabio Bertapelli, Marquell Johnson, Ken Pitetti, Mallory C. Smith, Benjamin Carlson, Jasmine S. Curtis, Stamatis Agiovlasitis
Summary: Sleep quality is associated with physical functioning in adults with Down syndrome, with total sleep time and average length of awakenings significantly related to walking performance. Age and BMI strengthen the relationship between sleep quality and physical functioning.
DISABILITY AND HEALTH JOURNAL
(2022)
Review
Nutrition & Dietetics
Carmen Martinez-Cue, Renata Bartesaghi
Summary: Down syndrome (DS) is a genetic disorder caused by the triplication of chromosome 21, resulting in intellectual disability starting in utero and continuing through infancy, with associated impairments in neurogenesis and connectivity that may lead to early-onset Alzheimer's disease. Current research focuses on using DS mouse models to discover potential pharmacotherapies, with fatty acids emerging as a promising treatment option for DS-related cognitive deficits and neurodevelopmental impairments. This suggests a need for further exploration of the potential benefits of fatty acids for individuals with DS.
Article
Chemistry, Applied
Francesca Di Donato, Alessandra Biancolillo, Alessandra Ferretti, Angelo Antonio D'Antonio, Federico Marini
Summary: Near Infrared (NIR) Spectroscopy can be used as a fast and economic method to authenticate pure Donkey milk (DM) and distinguish it from adulterated samples, even after undergoing freezing-thawing cycles.
JOURNAL OF FOOD COMPOSITION AND ANALYSIS
(2023)
Article
Food Science & Technology
Vicky Caponigro, Federico Marini, Amalia G. M. Scannell, Aoife A. Gowen
Summary: This study compares the efficacy of Raman, FT-NIR, and FT-MIR spectral imaging techniques in quantifying lactose concentration in dried whole milk on different metallic surfaces. The results demonstrate that spectral imaging can rapidly quantify lactose concentration without the need for standard references.
Article
Biochemistry & Molecular Biology
Francesco Pastore, Martina Battistoni, Raimondo Sollazzo, Pietro Renna, Fabiola Paciello, Domenica Donatella Li Puma, Eugenio Barone, Onur Dagliyan, Cristian Ripoli, Claudio Grassi
Summary: ADAM10 is a cell surface protease involved in the cleavage of membrane proteins. Dysregulation of ADAM10 has been linked to various pathological conditions, including AD. Researchers have designed a bioengineering strategy to control the cleavage activity of ADAM10, providing insights into AD treatment.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Neurosciences
Chiara Urbinati, Chiara Lanzillotta, Livia Cosentino, Daniela Valenti, Maria Cristina Quattrini, Livia Di Crescenzo, Francesca Prestia, Donatella Pietraforte, Marzia Perluigi, Fabio Di Domenico, Rosa Anna Vacca, Bianca De Filippis
Summary: Metformin treatment can selectively correct cognitive flexibility defects, improve mitochondrial function, and inhibit oxidative stress in female mice with Rett syndrome (RTT). However, it does not affect the general health and motor skills of RTT mice.
Article
Chemistry, Multidisciplinary
Martina Foschi, Valerio Di Maria, Angelo Antonio D'Archivio, Federico Marini, Alessandra Biancolillo
Summary: In recent years, legumes have gained popularity among consumers due to their nutritional benefits. However, the valuable Italian lentils, often produced in smaller communities, can be subject to fraud as expired lentils may be sold alongside edible ones. This study aims to develop a non-destructive method using RGB imaging and SPORT-LDA classifier to classify Italian lentils according to their harvest year, origin, and detect expiration. The SPORT-LDA models achieved an average classification accuracy of around 88% for geographical origin and an overall accuracy of 90% for expiration detection.
APPLIED SCIENCES-BASEL
(2023)
Article
Chemistry, Organic
Sarah R. Moor, James R. Howard, Brenden T. Herrera, Matthew S. McVeigh, Federico Marini, Adrian T. Keatinge-Clay, Eric V. Anslyn
Summary: Characterization of chiral molecules in solution is essential for measuring reaction success. Distinguishing between chiral molecules with multiple stereocenters using optical techniques is challenging. This study presents a technique using circular dichroism spectra and multivariate regression models to predict the speciation of 3-hydroxy-2-methylbutanoic acid stereoisomers, allowing for rapid and accurate determination of enantiomeric excess and diastereomeric excess without chiral chromatography.
ORGANIC CHEMISTRY FRONTIERS
(2023)
Article
Biochemistry & Molecular Biology
Antonella Tramutola, Simona Lanzillotta, Giuseppe Aceto, Sara Pagnotta, Gabriele Ruffolo, Pierangelo Cifelli, Federico Marini, Cristian Ripoli, Eleonora Palma, Claudio Grassi, Fabio Di Domenico, Marzia Perluigi, Eugenio Barone
Summary: Down syndrome (DS) is associated with Alzheimer's disease (AD) and brain insulin resistance. The KYCCSRK peptide has shown potential for improving insulin signaling in DS and reducing AD-like neuropathology in mice.
Article
Biochemistry & Molecular Biology
Flavia Agata Cimini, Antonella Tramutola, Ilaria Barchetta, Valentina Ceccarelli, Elena Gangitano, Simona Lanzillotta, Chiara Lanzillotta, Maria Gisella Cavallo, Eugenio Barone
Summary: BVRA protein levels can change dynamically in response to insulin and are greater in individuals with lower insulin sensitivity, indicating a correlation with insulin resistance and secretion.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Editorial Material
Chemistry, Multidisciplinary
Federico Marini, Alessandra Biancolillo
APPLIED SCIENCES-BASEL
(2023)
Article
Chemistry, Medicinal
Alessandra Biancolillo, Claudia Scappaticci, Martina Foschi, Claudia Rossini, Federico Marini
Summary: Counterfeit or substandard drugs are a growing concern, particularly during the COVID-19 pandemic, and analytical chemistry plays a crucial role in detecting and addressing this issue. This study focuses on developing a NIR-based tool for quantifying dexamethasone in excipient mixtures. Two regression strategies were tested, with the second strategy (SPORT) proving to be the most accurate, achieving an R-pred(2) of 0.9044 and an RMSEP of 450 mg/kg on external mixtures. The Variable Importance in Projection (VIP) was used to interpret the results and identify the most influential spectral regions in the SPORT model.
Article
Chemistry, Analytical
Andrea Cerrato, Alessandra Biancolillo, Giuseppe Cannazza, Chiara Cavaliere, Cinzia Citti, Aldo Lagana, Federico Marini, Massimo Montanari, Carmela Maria Montone, Roberta Paris, Nino Virzi, Anna Laura Capriotti
Summary: This study conducted a comprehensive analysis of industrial hemp samples from different regions in Italy and different cultivars using metabolomics. The study found that cannabinoids, flavonoids, and phenolic acids play a key role in differentiating hemp samples and determining their biological activities.
ANALYTICA CHIMICA ACTA
(2023)
Article
Chemistry, Analytical
Michel Rocha Baqueta, Patricia Valderrama, Enrique Anastacio Alves, Juliana Azevedo Lima Pallone, Federico Marini
Summary: Robusta Amazonico is a popular Amazonian coffee in Brazil, recently registered as a geographical indication. NIR spectroscopy is used to authenticate its production by indigenous people. Benchtop and portable NIR instruments were compared, with the best models providing accuracy rates of 96% and 92% respectively.
Correction
Biochemistry & Molecular Biology
Siew Chin Chan, Chih-Wei Tung, Chia-Wei Lin, Yun-Shiuan Tung, Po-Min Wu, Pei-Hsun Cheng, Chuan-Mu Chen, Shang-Hsun Yang
FREE RADICAL BIOLOGY AND MEDICINE
(2024)
Article
Biochemistry & Molecular Biology
Suyuan Liu, Meiling Tan, Jiangxue Cai, Chenxuan Li, Miaoxin Yang, Xiaoxiao Sun, Bin He
Summary: This study reveals that the antibiotic doxycycline effectively inhibits NLRP3 inflammasome activation by targeting mitochondrial translation and mtDNA synthesis, offering potential for the treatment of NLRP3-related diseases.
FREE RADICAL BIOLOGY AND MEDICINE
(2024)
Article
Biochemistry & Molecular Biology
Hao Liu, Nana Li, Ge Kuang, Xia Gong, Ting Wang, Jun Hu, Hui Du, Minxuan Zhong, Jiashi Guo, Yao Xie, Yang Xiang, Shengwang Wu, Yiling Yuan, Xinru Yin, Jingyuan Wan, Ke Li
Summary: Protectin D1 (PTD1) improves hepatic steatosis, inflammation and fibrosis in a NASH mouse model by inhibiting the activation of TLR4 downstream signaling pathway, possibly through upregulation of IRAK-M expression, suggesting a potential new treatment for NASH.
FREE RADICAL BIOLOGY AND MEDICINE
(2024)