Article
Biochemistry & Molecular Biology
Malgorzata Wrzosek, Klaudia Slusarczyk
Summary: This study examined the influence of the MTHFR C677T variant on BMI and its role as a risk factor for obesity. The results showed that the MTHFR 677TT genotype is not directly related to a higher BMI in Polish adults but has a detrimental effect on folate concentrations in individuals with high BMI values.
Article
Genetics & Heredity
Mahla Ghorbani, Marjan Azghandi, Reza Khayami, Javad Baharara, Mohammad Amin Kerachian
Summary: This study found a significant association between the homozygote genotype of MTHFR rs1801133 polymorphism and an increased risk of CRC in the Iranian population. However, there was no significant difference in the levels of folate and Vit B-12 between the case and control groups. Additionally, higher risk was observed in 677TT and 677TT + C677T genotypes of MTHFR compared to 677CC carriers among CRC patients.
BMC MEDICAL GENOMICS
(2021)
Review
Clinical Neurology
Jiahui Sun, Xuefan Jiang, Ming Zhao, Lina Ma, Hui Pei, Nanyang Liu, Hao Li
Summary: This meta-analysis evaluated the association between MTHFR C677T (rs1801133) gene variants and the risk of MCI, finding no significant correlation between the two. However, further large-scale studies covering various factors are needed to fully explore this relationship.
BEHAVIOURAL NEUROLOGY
(2021)
Article
Endocrinology & Metabolism
Alaina M. Reagan, Karen E. Christensen, Leah C. Graham, Amanda A. Bedwell, Kierra Eldridge, Rachael Speedy, Lucas L. Figueiredo, Scott C. Persohn, Teodoro Bottiglieri, Kwangsik Nho, Michael Sasner, Paul R. Territo, Rima Rozen, Gareth R. Howell
Summary: Vascular contributions to cognitive impairment and dementia, particularly Alzheimer's disease and related dementias, are increasing. This study created a novel mouse model with a MTHFR variant and found that it affects cerebrovascular health, laying the foundation for studying the genetic susceptibility for cerebrovascular dysfunction in dementias.
JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM
(2022)
Review
Biotechnology & Applied Microbiology
Carla Talita Azevedo Ginani, Jefferson Romaryo Duarte da Luz, Kleyton Santos de Medeiros, Ayane Cristine Alves Sarmento, Fabio Coppede, Maria das Gracas Almeida
Summary: This systematic review and meta-analysis found that the MTHFR C677T polymorphism is associated with maternal risk for Down syndrome (DS), while the A1298C polymorphism is not. The association is more significant in the Asian population and is not observed in Europeans. Further studies are needed to explain these differences.
MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH
(2023)
Article
Endocrinology & Metabolism
Ayse F. Nursal, Serbulent Yigit, Husniye Rustemoglu, Abdullah Cenikli
Summary: The study found that the MTHFR C677T CC genotype and C allele were more prevalent in elite athletes, while the CT genotype was higher in the control group. This suggests an association between the MTHFR C677T variant and athletic performance among elite Turkish athletes.
ENDOCRINE METABOLIC & IMMUNE DISORDERS-DRUG TARGETS
(2021)
Article
Gastroenterology & Hepatology
Kapil K. Upadhyay, Xiaomeng Du, Yanhua Chen, Brandon Buscher, Vincent L. Chen, Antonino Oliveri, Raymond Zhao, Elizabeth K. Speliotes, Graham F. Brady
Summary: This study found that a common variant in nuclear envelope-related genes, rs6461378, is associated with NAFLD and metabolic disease. This variant leads to increased degradation of proteins and results in insulin resistance and lipid accumulation.
JOURNAL OF HEPATOLOGY
(2023)
Review
Obstetrics & Gynecology
Yanjie Chen, Minyan Lu, Jinyi Nie, Jianjun Liu, Yu Liu, Ye Meng, Xiaohan Sun, Cheng Ji, Jie Zhang, Xiaoqin Yang
Summary: A meta-analysis on the relationship between MTHFR gene polymorphisms and gestational diabetes risk revealed that the T allele of the C677T polymorphism may increase susceptibility to gestational diabetes in Asians, while the A1298C polymorphism is not associated with an increased risk of this disorder.
ARCHIVES OF GYNECOLOGY AND OBSTETRICS
(2022)
Article
Biochemistry & Molecular Biology
H. Aslanov, R. Agaev, B. Bayramov, A. Hadizade, N. Alakbarova, S. Abdulrahimli, V Yagublu
Summary: In a population-based case-control study in Azerbaijan, we investigated the association between methylenetetrahydrofolate reductase gene C677T polymorphisms and colorectal cancer. Genomic DNA was extracted from 155 colorectal cancer patients and 155 healthy individuals. The CC, CT, and TT genotypes of MTHFR (C677T) were examined using PCR-RFLP. Heterozygote CT and homozygous mutant TT genotypes were more prevalent in colorectal cancer patients compared to controls. However, no significant associations were found between MTHFR genotype and allele frequency and colorectal cancer risk. These results suggest that MTHFR C677T polymorphism may not be associated with colorectal cancer risk in the Azerbaijani population, but further validation is needed in larger cohort studies.
GENETICS AND MOLECULAR RESEARCH
(2023)
Article
Neurosciences
Xianmin Gong, Lin Shi, Yuanyuan Wu, Yishan Luo, Timothy Kwok
Summary: B vitamins may be more effective in slowing down cognitive decline in MCI patients with atrophy in the left frontal lobe.
JOURNAL OF ALZHEIMERS DISEASE
(2022)
Review
Psychology, Multidisciplinary
Israel Martinez-Nicolas, Thide E. Llorente, Francisco Martinez-Sanchez, Juan Jose G. Meilan
Summary: The field of voice and speech analysis has gained popularity in detecting neurodegenerative diseases like Alzheimer's and mild cognitive impairment. Studies have found that speech analysis is a cost-effective and reliable method with high diagnostic accuracy for distinguishing between healthy aging and cognitive disorders. Researchers have identified specific speech features that can effectively diagnose these conditions.
FRONTIERS IN PSYCHOLOGY
(2021)
Article
Clinical Neurology
Jingzhu Fu, Qian Liu, Yun Zhu, Changqing Sun, Huilian Duan, Ling Huang, Dezheng Zhou, Zehao Wang, Jing Zhao, Zhenshu Li, Fei Ma, Wen Li, Huan Liu, Xumei Zhang, Yongjie Chen, Guangshun Wang, Yue Du, Guowei Huang
Summary: Lower serum folate concentration is associated with increased risk of mild cognitive impairment in elderly Chinese, and this association may be mediated by homocysteine and leukocyte telomere length.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Article
Genetics & Heredity
Brehima Diakite, Yaya Kassogue, Mamoudou Maiga, Guimogo Dolo, Oumar Kassogue, Jane L. Holl, Brian Joyce, Jun Wang, Kadidiatou Cisse, Fousseyni Diarra, Mamadou L. Keita, Cheick B. Traore, Bakarou Kamate, Sidi B. Sissoko, Bourama Coulibaly, Adama S. Sissoko, Drissa Traore, Fatoumata M. Sidibe, Sekou Bah, Ibrahim Teguete, Madani Ly, Sellama Nadifi, Hind Dehbi, Kyeezu Kim, Robert Murphy, Lifang Hou
Summary: Mutations in the MTHFR gene can affect methylation and protein synthesis, promoting the development of breast cancer. However, the C677T polymorphism of the MTHFR gene does not influence the risk of breast cancer in the Malian population.
Article
Immunology
Beeke Tappe, Chris D. Lauruschkat, Lea Strobel, Jezreel Pantaleon Garcia, Oliver Kurzai, Silke Rebhan, Sabrina Kraus, Elena Pfeuffer-Jovic, Lydia Bussemer, Lotte Possler, Matthias Held, Kerstin Huenniger, Olaf Kniemeyer, Sascha Schaeuble, Axel A. Brakhage, Gianni Panagiotou, P. Lewis White, Hermann Einsele, Juergen Loeffler, Sebastian Wurster
Summary: Patients with COVID-19 are vulnerable to deadly secondary fungal infections, but there is limited experimental evidence on the impact of SARS-CoV-2 on antifungal immunity. This study found that T-helper cells in COVID-19 patients had weakened activation and cytokine release in response to fungal antigens, and there was reduced granulocyte activation and fungal killing capacity. These weakened immune responses to fungi were not associated with COVID-19 severity or corticosteroid intake. The findings provide insights into the immune predisposition to post-viral mold infections in COVID-19 patients.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Audiology & Speech-Language Pathology
Janet Cohen Sherman, Charles R. Henderson, Suzanne Flynn, James W. Gair, Barbara Lust
Summary: The study found significant language deficits in aMCI patients, especially in syntax-semantics integration in complex sentence processing. Compared with the healthy aging and healthy young groups, aMCI performed significantly worse in psycholinguistic tests. Furthermore, the results indicate a certain level of independence between memory deficits and language deficits.
JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH
(2021)
Article
Clinical Neurology
Janina Krell-Roesch, Martin Rakusa, Jeremy A. Syrjanen, Argonde C. van Harten, Val J. Lowe, Clifford R. Jack, Walter K. Kremers, David S. Knopman, Gorazd B. Stokin, Ronald C. Petersen, Maria Vassilaki, Yonas E. Geda
Summary: This study examined the association between CSF biomarkers of Alzheimer's disease and neuropsychiatric symptoms in older non-demented adults. The results showed that lower CSF Aβ42 and higher t-tau/Aβ42 and p-tau/Aβ42 ratios were associated with depression, anxiety, and other NPS.
ALZHEIMERS & DEMENTIA
(2023)
Article
Clinical Neurology
Patrick H. Luckett, Charlie Chen, Brian A. Gordon, Julie Wisch, Sarah B. Berman, Jasmeer P. Chhatwal, Carlos Cruchaga, Anne M. Fagan, Martin R. Farlow, Nick C. Fox, Mathias Jucker, Johannes Levin, Colin L. Masters, Hiroshi Mori, James M. Noble, Stephen Salloway, Peter R. Schofield, Adam M. Brickman, William S. Brooks, David M. Cash, Michael J. Fulham, Bernardino Ghetti, Clifford R. Jack, Jonathan Voeglein, William E. Klunk, Robert Koeppe, Yi Su, Michael Weiner, Qing Wang, Daniel Marcus, Deborah Koudelis, Nelly Joseph-Mathurin, Lisa Cash, Russ Hornbeck, Chengjie Xiong, Richard J. Perrin, Celeste M. Karch, Jason Hassenstab, Eric McDade, John C. Morris, Tammie L. S. Benzinger, Randall J. Bateman, Beau M. Ances
Summary: This study analyzed 19 biomarkers of Alzheimer's disease using hierarchical clustering and feature selection, and found that amyloid and tau measures were the primary predictors. Emerging biomarkers of neuronal integrity and inflammation showed weaker predictive ability.
ALZHEIMERS & DEMENTIA
(2023)
Article
Geriatrics & Gerontology
Juraj Sprung, Mariana L. Laporta, David S. Knopman, Ronald C. Petersen, Michelle M. Mielke, Clifford R. Jack, David P. Martin, Andrew C. Hanson, Darrell R. Schroeder, Phillip J. Schulte, Scott A. Przybelski, Diana J. Valencia Morales, Toby N. Weingarten, Prashanthi Vemuri, David O. Warner
Summary: This study found that hospitalization in older adults is associated with accelerated cortical thinning, amyloid accumulation, and white matter hyperintensities (WMH) increases, especially in medical hospitalizations. However, these changes were modest and did not translate to an increased risk of crossing the abnormality threshold.
JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES
(2023)
Article
Geriatrics & Gerontology
Emma L. Ducca, Gabriela T. Gomez, Priya Palta, Kevin J. Sullivan, Clifford R. Jack, David S. Knopman, Rebecca F. Gottesman, Jeremy Walston, B. Gwen Windham, Keenan A. Walker
Summary: The study found a strong association between cerebral white matter structure and current and future frailty. Specifically, white matter hyperintensity volume was significantly associated with frailty. However, measures of white matter microstructure were not generally associated with progression from nonfrail to frail status.
JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES
(2023)
Article
Geriatrics & Gerontology
B. Gwen Windham, Michael E. Griswold, Radhikesh Ranadive, Kevin Sullivan, Thomas H. Mosley, Michelle M. Mielke, Clifford R. Jack, Dave Knopman, Ron Petersen, Prashanthi Vemuri
Summary: This study aimed to examine if the association between cerebral perfusion and gait speed is influenced by systolic blood pressure and age. The results showed that poorer cerebral perfusion is associated with slower gait speeds, particularly with older age, while higher perfusion can significantly attenuate age-related differences in gait speed.
JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES
(2023)
Article
Computer Science, Artificial Intelligence
Haoteng Tang, Lei Guo, Xiyao Fu, Yalin Wang, Scott Mackin, Olusola Ajilore, Alex D. Leow, Paul M. Thompson, Heng Huang, Liang Zhan
Summary: MRI-derived brain networks are widely used to understand interactions among brain regions and their relationships with brain development and diseases. Graph mining on these networks can help discover biomarkers for clinical phenotypes and neurodegenerative diseases. Most current studies focus on projecting structural networks onto functional networks to extract a fused representation.
MEDICAL IMAGE ANALYSIS
(2023)
Article
Multidisciplinary Sciences
Chenzhong Yin, Phoebe Imms, Mingxi Cheng, Anar Amgalan, Nahian F. Chowdhury, Roy J. Massett, Nikhil N. Chaudhari, Xinghe Chen, Paul M. Thompson, Paul Bogdan, Andrei Irimia
Summary: This study introduces a convolutional neural network (CNN) to estimate brain age (BA) from magnetic resonance images (MRIs) and achieves lower estimation errors compared to previous studies. The CNN provides detailed brain aging maps that reveal sex differences and neurocognitive trajectories in individuals with mild cognitive impairment (MCI) and Alzheimer's disease (AD). BA is shown to capture dementia symptom severity, functional disability, and executive function better than chronological age (CA) in individuals with MCI. The proposed framework can systematically map the relationship between aging-related neuroanatomy changes and neurocognitive measures in both cognitively normal individuals and those with MCI or AD, aiding in early identification of AD risk.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Article
Clinical Neurology
Sanaz Sedaghat, Yuekai Ji, Jean-Philippe Empana, Timothy M. Hughes, Thomas H. Mosley, Rebecca F. Gottesman, Michael Griswold, Clifford R. Jack, Pamela L. Lutsey, Thomas T. van Sloten
Summary: This study aimed to investigate the association of cardiovascular health in midlife and late-life as well as changes in cardiovascular health between these periods with the prevalence of cerebral vascular disease in late-life. The results showed that better cardiovascular health in midlife, improvement of cardiovascular health within midlife, higher cardiovascular health at late-life, and improvement of cardiovascular health from midlife to late-life were associated with a lower prevalence of cerebral vascular disease markers in late-life. Therefore, improving cardiovascular health in midlife and late-life may help prevent the development of cerebral vascular disease.
Article
Oncology
Kelly Nudelman, Kwangsik Nho, Michael Zhang, Brenna C. McDonald, Wanting Zhai, Brent J. Small, Claire E. Wegel, Paul B. Jacobsen, Heather S. L. Jim, Sunita K. Patel, Deena M. A. Graham, Tim A. Ahles, James C. Root, Tatiana Foroud, Elizabeth C. Breen, Judith E. Carroll, Jeanne S. Mandelblatt, Andrew J. Saykin
Summary: This study found that genetics may play an important role in modifying risk for cognitive decline in older female breast cancer survivors. Several genetic variants and genes were identified to be associated with differences in patterns of cognitive decline in cancer patients compared to controls. Further research and validation of these findings in other cancer populations is necessary to inform therapeutic research and evaluations of risk for cognitive decline in older cancer survivors.
Article
Health Care Sciences & Services
Gustavo Sudre, Anto Bagic, James T. Becker, John P. Ford
Summary: In this study, using neuroimaging data and a whole-head Elekta Neuromag 306 sensor system, a set of features strongly correlated with brain function were derived. These features can serve as a noninvasive quantitative tool for clinicians to screen and monitor cognitive function in at-risk individuals. The set of features were able to effectively differentiate between participants with normative and nonnormative brain function, and accurately predict participants' Mini-Mental Test score.
JMIR FORMATIVE RESEARCH
(2023)
Article
Clinical Neurology
Srishti Shrestha, Xiaoqian Zhu, Kevin J. Sullivan, Chad Blackshear, Jennifer A. Deal, A. Richey Sharrett, Vidyulata Kamath, Andrea L. C. Schneider, Clifford R. Jack, Juebin Huang, Priya Palta, Robert I. Reid, David S. Knopman, Rebecca F. Gottesman, Honglei Chen, B. Gwen Windham, Michael E. Griswold, Jr Thomas H. Mosley
Summary: Research shows that neuronal microstructural integrity in multiple brain regions, particularly the medial temporal lobe (MTL), is associated with odor identification ability. The associations between microstructural integrity and olfaction are stronger in individuals with mild cognitive impairment (MCI) compared to those with normal cognition, suggesting different effects of dementia pathogenesis.
Article
Clinical Neurology
Keenan A. Walker, Ron C. Hoogeveen, Aaron R. Folsom, Christie M. Ballantyne, David S. Knopman, B. Gwen Windham, Clifford R. Jack Jr, Rebecca F. Gottesman
Summary: In the article "Midlife Systemic Inflammatory Markers Are Associated With Late-Life Brain Volume: The ARIC Study" by Walker et al., coding errors were found to have affected the statistical analyses. The authors have corrected the errors and reanalyzed the data, stating that the errors did not change the overall message of the article. The identified errors include misclassification of a nominal covariate, use of incorrect alcohol use covariate, and an error in the scaling of beta coefficients.
Article
Clinical Neurology
Rioghna R. Pittock, Jeremiah A. Aakre, Anna M. Castillo, Vijay K. Ramanan, Walter K. Kremers, Clifford R. Jack Jr, Prashanthi Vemuri, Val J. Lowe, David S. Knopman, Ronald C. Petersen, Jonathan Graff-Radford, Maria Vassilaki
Summary: Treatment options for Alzheimer's disease are limited, and research on the applicability of anti-beta-amyloid monoclonal antibodies in the general population is lacking. This study aims to assess the generalizability of anti-amyloid treatment and apply the eligibility criteria of two clinical trials to a population-based sample.
Article
Cell Biology
Rafi Haque, Caroline M. Watson, Jiaqi Liu, E. Kathleen Carter, Duc M. Duong, James J. Lah, Aliza P. Wingo, Blaine R. Roberts, Erik C. B. Johnson, Andrew J. Saykin, Leslie M. Shaw, Nicholas T. Seyfried, Thomas S. Wingo, Allan I. Levey
Summary: This study developed a reliable and high-throughput mass spectrometry assay to detect 48 key proteins in cerebrospinal fluid (CSF), and found that this panel of proteins performed at least as well as existing biomarkers in predicting clinical diagnosis, brain imaging results, cognitive decline, and dementia severity in Alzheimer's disease. Combining this panel with existing biomarkers significantly improved diagnostic accuracy and prediction of disease progression.
SCIENCE TRANSLATIONAL MEDICINE
(2023)
Article
Genetics & Heredity
Thea J. Rosewood, Kwangsik Nho, Shannon L. Risacher, Sujuan Gao, Li Shen, Tatiana Foroud, Andrew J. Saykin
Summary: The genetic susceptibility for Alzheimer's disease (AD) is not fully understood. This study used an endophenotype approach to identify genetic associations and discovered novel genetic loci related to AD. These findings provide deeper insights into the genetic mechanisms underlying AD.