Article
Pathology
Elizabeth Berry-Kravis, Lili Zhou, Jonathan Jackson, Flora Tassone
Summary: The novel CGG repeat primed FMR1 PCR assay designed in 2009 allows consistent detection of large full mutation alleles, resolution of heterozygosity in females, and mapping of AGG interspersions. The AmplideX Fragile X Dx and Carrier Screen Kit has been validated for FDA approval, showing high accuracy and efficiency in determining FMR1 allele size. This assay is considered a highly accurate and time-efficient method for FMR1 allele size determination, with limitations including no methylation assessment and difficulty in detecting full mutation peaks in some mosaic samples.
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
(2021)
Review
Pharmacology & Pharmacy
Randi J. Hagerman, Paul J. Hagerman
Summary: Fragile X syndrome is a common form of inherited intellectual disability and autism spectrum disorder, caused by large expansions of noncoding CGG repeats in the FMR1 gene. While there is currently no direct way to reverse the loss of FMRP, there is potential for effective treatments targeting dysregulated pathways in the near future.
ANNUAL REVIEW OF PHARMACOLOGY AND TOXICOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Paul R. Fisher, Claire Y. Allan, Oana Sanislav, Anna Atkinson, Kevin R. W. Ngoei, Bruce E. Kemp, Elsdon Storey, Danuta Z. Loesch, Sarah J. Annesley
Summary: The study focused on the manifestations of FXS and FXTAS caused by the non-coding trinucleotide repeats in the FMR1 gene, as well as the behaviors of mitochondrial function and cellular stress signaling pathways in premutation carriers. The results showed elevated AMPK and mitochondrial respiratory activities, reduced ROS levels, and decreased TORC1 activities in premutation cells.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Neurosciences
Asem Almansour, Hiroyuki Ishiura, Jun Mitsui, Takashi Matsukawa, Miho Kawabe Matsukawa, Hideaki Shimizu, Atsuhiko Sugiyama, Tatsushi Toda, Shoji Tsuji
Summary: FXTAS is a neurodegenerative disorder caused by FMR1 gene mutation, and it can be misdiagnosed with other disorders due to overlapping features. The study aimed to determine the frequency of FMR1 premutation alleles in Japanese patients with undiagnosed cerebellar ataxia and multiple system atrophy, finding a certain percentage of male patients with the mutation.
Article
Medicine, General & Internal
Maria Isabel Alvarez-Mora, Ines Agusti, Robin Wijngaard, Estefania Martinez-Barrios, Tamara Barcos, Aina Borras, Sara Peralta, Marta Guimera, Ana Goday, Dolors Manau, Laia Rodriguez-Revenga
Summary: The study found a significant association between FXPOI and high expression levels of FMR4 in female FMR1 premutation carriers, suggesting a potential role of FMR4 as a biomarker for FXPOI.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Multidisciplinary Sciences
Yogeeshwar Ajjugal, Narendar Kolimi, Thenmalarchelvi Rathinavelan
Summary: CGG tandem repeat expansion in the FMR1 gene leads to unusual nucleic acid conformations, causing genetic instabilities. The number of G...G or C...C mismatches dictates the secondary structural choice of the FMR1 gene and its transcripts, affecting RNA structure in FXTAS.
SCIENTIFIC REPORTS
(2021)
Article
Genetics & Heredity
Chunlei Jin, Xiangdong Zhang, Qiang Lei, Penglong Chen, Hui Hu, Shuangshuang Shen, Jiao Liu, Shixuanbao Ye
Summary: Fragile X syndrome is a common X-linked inherited syndrome caused by reduced or absent FMRP synthesis. This study identified a novel pathogenic mutation in the FMR1 gene, providing important insights into the etiology of the disease.
FRONTIERS IN GENETICS
(2023)
Article
Geriatrics & Gerontology
Juan Chen, Yuwen Zhao, Xun Zhou, Jin Xue, Qiao Xiao, Hongxu Pan, Xiaoxia Zhou, Yaqin Xiang, Jian Li, Liping Zhu, Zhou Zhou, Yang Yang, Qian Xu, Qiying Sun, Xinxiang Yan, Jieqiong Tan, Jinchen Li, Jifeng Guo, Ranhui Duan, Beisha Tang, Qiao Yu, Zhenhua Liu
Summary: This study found that the GZ allele of FMR1 CGG repeat expansions was not significantly enriched in Chinese PD patients, suggesting that it may not be strongly associated with PD in this population. However, two PD patients were found to have FMR1 premutation.
FRONTIERS IN AGING NEUROSCIENCE
(2023)
Article
Cell Biology
Maria Jimena Salcedo-Arellano, Michael D. Johnson, Yingratana A. McLennan, Ye Hyun Hwang, Pablo Juarez, Erin Lucille McBride, Adriana P. Pantoja, Blythe Durbin-Johnson, Flora Tassone, Randi J. Hagerman, Veronica Martinez-Cerdeno
Summary: This study analyzed postmortem human brain tissues and identified alterations in metabolites involved in oxidative-stress response and bioenergetics in individuals with FXTAS. Changes in relative abundance of specific metabolites were found in specific brain regions, including 2,5-dihydroxypyrazine. The study also found correlations between decreased relative abundance of cytidine and oleamide and symptoms of FXTAS.
Article
Multidisciplinary Sciences
Caroline M. Dias, Biju Issac, Liang Sun, Abigail Lukowicz, Maya Talukdar, Shyam K. Akula, Michael B. Miller, Katherine Walsh, Shira Rockowitz, Christopher A. Walsh
Summary: Short trinucleotide expansions at the FMR1 locus are associated with the late-onset condition fragile X-associated tremor/ataxia syndrome (FXTAS). Using single-nucleus RNA sequencing, this study found that the upregulation of FMR1 in glial populations associated with premutation expansions was only modest. Additionally, glial dysregulation was identified as a critical facet of premutation pathophysiology.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Article
Multidisciplinary Sciences
Ha Eun Kong, Junghwa Lim, Alexander Linsalata, Yunhee Kang, Indranil Malik, Emily G. Allen, Yiqu Cao, Lisa Shubeck, Rich Johnston, Yanting Huang, Yanghong Gu, Xiangxue Guo, Michael E. Zwick, Zhaohui Qin, Thomas S. Wingo, Jorge Juncos, David L. Nelson, Michael P. Epstein, David J. Cutler, Peter K. Todd, Stephanie L. Sherman, Stephen T. Warren, Peng Jin
Summary: This study identified Prosbeta5 (PSMB5) as a candidate genetic modifier for FXTAS using a Drosophila model. Knockdown of PSMB5 suppressed CGG-associated neurodegeneration in flies and cells. Additionally, an expression quantitative trait locus variant in PSMB5 was associated with delayed onset of FXTAS in human carriers. These findings suggest a therapeutic strategy for FXTAS by targeting PSMB5.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Neurosciences
Maria Jimena Salcedo-Arellano, Desiree Sanchez, Jun Yi Wang, Yingratana A. McLennan, Courtney Jessica Clark, Pablo Juarez, Andrea Schneider, Flora Tassone, Randi J. Hagerman, Veronica Martinez-Cerdeno
Summary: This case report documents the co-occurrence of FXTAS and AD in a 71-year-old carrier with rapid cognitive decline and remarkable MRI changes.
FRONTIERS IN NEUROSCIENCE
(2021)
Review
Biochemistry & Molecular Biology
Elisabetta Tabolacci, Veronica Nobile, Cecilia Pucci, Pietro Chiurazzi
Summary: A dynamic mutation in the FMR1 gene leads to Fragile X-related Disorders, primarily due to the expansion of an unstable CGG repeat sequence. Expansion events of the CGG sequence are more common than contractions, and the formation of abnormal secondary DNA structures may contribute to CGG expansion.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Multidisciplinary Sciences
Caroline M. Dias, Biju Issac, Liang Sun, Abigail Lukowicz, Maya Talukdar, Shyam K. Akula, Michael B. Miller, Katherine Walsh, Shira Rockowitz, Christopher A. Walsh
Summary: This study challenges the previous belief of extremely elevated FMR1 increases in FXTAS and indicates that the upregulation is not as high as expected. It also reveals a decrease in the proportion of astrocytes in the cortex of premutation cases. Glial dysregulation may play a critical role in the pathophysiology of premutation.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Article
Biochemistry & Molecular Biology
Danuta Z. Loesch, Flora Tassone, Anna Atkinson, Paige Stimpson, Nicholas Trost, Dean L. Pountney, Elsdon Storey
Summary: Expansions of the CGG repeat in the non-coding segment of the FMR1 X-linked gene are associated with various phenotypic changes. Female carriers of the fragile X premutation may themselves experience a wide range of clinical problems, with the most severe being Fragile X-Associated Tremor Ataxia Syndrome (FXTAS). Male premutation carriers have a higher risk of developing FXTAS, but sex-specific differences in clinical manifestations and progression are poorly documented.
FRONTIERS IN MOLECULAR BIOSCIENCES
(2021)
Article
Endocrinology & Metabolism
Catherine E. de Keyser, Filipe Valerio de Lima, Frank H. de Jong, Albert Hofman, Yolanda B. de Rijke, Andre G. Uitterlinden, Loes E. Visser, Bruno H. Stricker
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2015)
Article
Obstetrics & Gynecology
Sharon Lie Fong, Izaak Schipper, Olivier Valkenburg, Frank H. de Jong, Jenny A. Visser, Joop S. E. Laven
EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY
(2015)
Article
Endocrinology & Metabolism
A. Zulfa Juniarto, Yvonne G. van der Zwan, Ardy Santosa, Mahayu Dewi Ariani, Stefanie Eggers, Remko Hersmus, Axel P. N. Themmen, Hennie T. Bruggenwirth, Katja P. Wolffenbuttel, Andrew Sinclair, Stefan J. White, Leendert H. J. Looijenga, Frank H. de Jong, Sultana M. H. Faradz, Stenvert L. S. Drop
CLINICAL ENDOCRINOLOGY
(2016)
Article
Obstetrics & Gynecology
Jurate Aleknaviciute, Joke H. M. Tulen, Mirjam Timmermans, Yolanda B. de Rijke, Elisabeth F. C. van Rossum, Frank H. de Jong, Steven A. Kushner
HUMAN REPRODUCTION
(2016)
Editorial Material
Endocrinology & Metabolism
F. H. de Jong, W. W. de Herder
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2016)
Article
Pediatrics
Jocelyn van Brakel, Sabine M. P. F. de Muinck Keizer-Schrama, Frans W. J. Hazebroek, Gert R. Dohle, Frank H. de Jong
JOURNAL OF PEDIATRIC SURGERY
(2017)
Article
Endocrinology & Metabolism
Anna L. Eriksson, John R. B. Perry, Andrea D. Coviello, Graciela E. Delgado, Luigi Ferrucci, Andrew R. Hoffman, Ilpo T. Huhtaniemi, M. Arfan Ikram, Magnus K. Karlsson, Marcus E. Kleber, Gail A. Laughlin, Yongmei Liu, Mattias Lorentzon, Kathryn L. Lunetta, Dan Mellstrom, Joanne M. Murabito, Anna Murray, Maria Nethander, Carrie M. Nielson, Inga Prokopenko, Stephen R. Pye, Leslie J. Raffel, Fernando Rivadeneira, Priya Srikanth, Lisette Stolk, Alexander Teumer, Thomas G. Travison, Andre G. Uitterlinden, Dhananjay Vaidya, Dirk Vanderschueren, Joseph M. Zmuda, Winfried Maerz, Eric S. Orwoll, Pamela Ouyang, Liesbeth Vandenput, Frederick C. W. Wu, Frank H. de Jong, Shalender Bhasin, Douglas P. Kiel, Claes Ohlsson
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2018)
Article
Peripheral Vascular Disease
Germaine C. Verwoert, Johannes Hofland, Najaf Amin, Francesco U. S. Mattace-Raso, Eric J. G. Sijbrands, Albert Hofman, Anton H. van den Meiracker, Andre G. Uitterlinden, Cornelia M. van Duijn, Frank H. de Jong, A. H. Jan Danser
AMERICAN JOURNAL OF HYPERTENSION
(2015)
Article
Endocrinology & Metabolism
R. A. Alwani, L. W. Schmit Jongbloed, F. H. de Jong, A. J. van der Lely, W. W. de Herder, R. A. Feelders
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2014)
Article
Obstetrics & Gynecology
Miranda G. Mes-Krowinkel, Yvonne V. Louwers, Annemarie G. M. G. J. Mulders, Frank H. de Jong, Bart C. J. M. Fauser, Joop S. E. Laven
FERTILITY AND STERILITY
(2014)
Article
Multidisciplinary Sciences
Johannes Hofland, Jacobie Steenbergen, Jacoba M. Voorsluijs, Michael M. P. J. Verbiest, Ronald R. de Krijger, Leo J. Hofland, Wouter W. de Herder, Andre G. Uitterlinden, Richard A. Feelders, Frank H. de Jong
Article
Cardiac & Cardiovascular Systems
Bouwe P. Krijthe, Frank H. de Jong, Albert Hofman, Oscar H. Franco, Jacqueline C. M. Witteman, Bruno H. C. Stricker, Jan Heeringa
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY
(2014)
Article
Cardiac & Cardiovascular Systems
Eline M. Rodenburg, Johannes Hofland, Charlotte van Noord, Loes E. Visser, Abbas Dehghan, Maja Barbalic, A. H. Jan Danser, Kim S. Lawson, Albert Hofman, Jacqueline Witteman, Eric Boerwinkle, Andre G. Uitterlinden, Bruno H. Stricker, Frank H. de Jong
CARDIOVASCULAR ENDOCRINOLOGY
(2014)
Meeting Abstract
Medicine, General & Internal
Wenjun Deng, Ferdinando S. Buonanno, Mary Lopez, Christopher Beecher, Charles Burant, Frank De Jong, Igor Palacios, Ignacio Inglessis, Scott Silverman, Kathleen Feeney, Mikaela Elia, Thomas R. Wickham, David McMullin, William Dec, Engh. Lo, Mingming Ning
JOURNAL OF INVESTIGATIVE MEDICINE
(2014)
Meeting Abstract
Medicine, General & Internal
Wenjun Deng, Christopher Beecher, Mary Lopez, Frank De Jong, Igor Palacios, Ignacio Inglessis, Kathleen Feeney, Mikaela Elia, David McMullin, William Dec, Charles Burant, Eng H. Lo, Ferdinando S. Buonanno, Mingming Ning
JOURNAL OF INVESTIGATIVE MEDICINE
(2014)
Article
Endocrinology & Metabolism
Shanshan Xiao, Natalie C. Ebner, Amirhossein Manzouri, Tie-Qiang Li, Diana S. Cortes, Kristoffer N. T. Mansson, Hakan Fischer
Summary: The mechanisms through which intranasal oxytocin affects the brain are not fully understood, but recent research suggests that brain regions with a higher density of oxytocin receptors may play a key role. This study used resting-state fMRI to investigate the effects of intranasal oxytocin administration on connectivity between these receptor-enriched regions and other regions in the brain, and found that the effects varied depending on the age of the participants.
PSYCHONEUROENDOCRINOLOGY
(2024)
Article
Endocrinology & Metabolism
Lisa Haase, Antonia Vehlen, Julia Strojny, Gregor Domes
Summary: This study found no significant changes in the cortisol awakening response (CAR) over the menstrual cycle, and no significant association with variations in estradiol and progesterone. These results suggest that CAR is largely robust against hormonal variations across the menstrual cycle.
PSYCHONEUROENDOCRINOLOGY
(2024)
Article
Endocrinology & Metabolism
Derek Schaeuble, Tyler Wallace, Sebastian A. Pace, Shane T. Hentges, Brent Myers
Summary: Depression and cardiovascular disease are influenced by daily life stress, but the biological mechanisms behind this connection are not well understood. This study shows that the ventromedial prefrontal cortex (vmPFC) plays a role in regulating stress responses and behavior, with sex-specific effects. In males, the vmPFC-PH circuitry promotes positive motivation and reduces stress responses, while in females it elevates stress responses. This suggests that cortical regulation of stress reactivity and behavior is mediated by projections to the hypothalamus in a sex-specific manner.
PSYCHONEUROENDOCRINOLOGY
(2024)
Article
Endocrinology & Metabolism
Jose M. Guzman, Montana H. Boone, Gabriela L. Suarez, Colter Mitchell, Christopher S. Monk, Luke W. Hyde, Nestor L. Lopez-Duran
Summary: The COVID-19 pandemic has led to increased life stress and internalizing disorders, with a disproportionate impact on women. This study focused on the neuroendocrinology of stress-related disorders and found that women have lower cortisol responses and higher DHEA responses to stress. However, lower cortisol and higher DHEA are associated with internalizing disorders in women, while the opposite is true in men. The study also examined the relationship between COVID-related stress and internalizing symptoms and found gender differences in the association between DHEA and cortisol and internalizing outcomes. These findings suggest distinct neuroendocrine pathways for stress-related disorders in young men and women.
PSYCHONEUROENDOCRINOLOGY
(2024)
Article
Endocrinology & Metabolism
Meriah L. Dejoseph, Keira B. Leneman, Alyssa R. Palmer, Emily R. Padrutt, Otiti A. Mayo, Daniel Berry
Summary: Childhood and adolescence are critical periods for the development of the stress response system. This study found a modest positive relation between the adrenocortical and sympathetic systems, as well as between the adrenocortical and parasympathetic systems. The strength of these associations varied based on methodological and sociodemographic characteristics.
PSYCHONEUROENDOCRINOLOGY
(2024)
Article
Endocrinology & Metabolism
Qiong Xiang, Jia-Sheng Tao, Shuai Dong, Xiao-Lin Liu, Liang Yang, Li-Ni Liu, Jing Deng, Xian-Hui Li
Summary: Chronic hyperglycemia accelerates the pathological process of cognitive dysfunction, but the heterogeneity of hippocampal cells under long-term high glucose conditions is not well known. In this study, single-cell RNA sequencing was performed on diabetic mice, and distinct cell sub-clusters and important genes involved in neuroplasticity regulation were identified.
PSYCHONEUROENDOCRINOLOGY
(2024)
Article
Endocrinology & Metabolism
Roger Mcintosh, Hannah Hoogerwoerd, Salman S. Ahmad, Cassandra Michel, Kaitlyn Dillon, Mahendra Kumar, Gail Ironson
Summary: The study found that a 4-session guided written emotional disclosure intervention led to significant reductions in total output and concentration of epinephrine in urine for up to 6 months in individuals living with HIV. This effect was especially pronounced in women. However, there were no significant changes in norepinephrine output in urine.
PSYCHONEUROENDOCRINOLOGY
(2024)
Article
Endocrinology & Metabolism
Meredith Gruhn, Adam Bryant Miller, Tory A. Eisenlohr-Moul, Sophia Martin, Matthew G. Clayton, Matteo Giletta, Paul D. Hastings, Matthew K. Nock, Karen D. Rudolph, George M. Slavich, Mitchell J. Prinstein, Margaret A. Sheridan
Summary: This study investigates how early life adversity characterized by threat impacts the association between neural activity and cortisol production during emotion processing. The results suggest that threat exposure may moderate the relationship between neural activation and cortisol response.
PSYCHONEUROENDOCRINOLOGY
(2024)