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)
Review
Clinical Neurology
Ramkumar Aishworiya, Dragana Protic, Randi Hagerman
Summary: There is increasing recognition of the heterogeneity of origin of cases of autism spectrum disorder (ASD), with genetic etiology identified in 20-40% of cases. The Fragile X premutation state is a newly discovered disease state associated with various disorders, including ASD, and understanding molecular mechanisms may facilitate targeted treatments in the future.
JOURNAL OF NEUROLOGY
(2022)
Article
Genetics & Heredity
Tracy Heung, Brigid Conroy, Sarah Malecki, Joanne Ha, Erik Boot, Maria Corral, Anne S. Bassett
Summary: 22q11.2 deletion syndrome affects final adult height distribution, with around 22.7% of patients having short stature, a significantly higher rate than expected in the general population. Factors such as moderate-to-severe intellectual disability, major congenital heart disease, and the common LCR22A-LCR22D (A-D) deletion are independent risk factors for short stature.
Article
Psychiatry
Heather Fielding-Gebhardt, Rebecca Swinburne Romine, Shelley Bredin-Oja, Nancy Brady, Steven F. Warren
Summary: Mothers of children with fragile X syndrome are more likely to experience anxiety and depression due to genetic risk and parenting stress. During the COVID-19 pandemic, their levels of anxiety and depression were elevated. The impacts of the pandemic and related stressors on their families directly affected their mental well-being.
FRONTIERS IN PSYCHIATRY
(2022)
Article
Biochemistry & Molecular Biology
David E. Godler, Yoshimi Inaba, Minh Q. Bui, David Francis, Cindy Skinner, Charles E. Schwartz, David J. Amor
Summary: This study characterizes the specific DNA methylation patterns of fragile X syndrome in blood and brain tissues, providing a novel avenue for the detection of the syndrome through DNA methylation analysis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Ramkumar Aishworiya, Dragana Protic, Si Jie Tang, Andrea Schneider, Flora Tassone, Randi Hagerman
Summary: This study identified a high prevalence of fragile X-associated neurodevelopmental disorders (FXAND) in a sample of young individuals with fragile X premutation carrier state (PM). The presence of FXAND and early recognition of associated symptoms may facilitate timely and appropriate care for PM individuals.
Article
Neurosciences
Se Jin Jeon, Huiyoung Kwon, Ho Jung Bae, Edson Luck Gonzales, Junhyeong Kim, Hye Jin Chung, Dong Hyun Kim, Jong Hoon Ryu, Chan Young Shin
Summary: This study found that agmatine can reverse FXS symptoms in Fmr1 KO mouse model, including compulsions, learning and memory deficits, hyperactivity, aberrant social interaction, and communication deficit, while normalizing abnormal long-term potentiation and depression in the hippocampus.
Article
Otorhinolaryngology
Nathan Lu, Alexa J. J. Kacin, Amber D. D. Shaffer, Amanda L. L. Stapleton
Summary: This study investigates the occurrence and development of otologic and sinonasal disease in individuals with 22q11.2 deletion syndrome. The results show that around half of children with this syndrome require surgical management for these diseases. Further studies will focus on the role of immunodeficiency in otologic and rhinologic diseases in this population.
OTOLARYNGOLOGY-HEAD AND NECK SURGERY
(2023)
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)
Review
Genetics & Heredity
Nattaporn Tassanakijpanich, Randi J. Hagerman, Juthamas Worachotekamjorn
Summary: FXS is caused by mutations in the FMR1 gene, with carriers possibly exhibiting a premutation. Carriers of the premutation may experience various health issues, including neuropsychiatric disorders and ovarian dysfunction. Physicians need to recognize these problems and provide appropriate management.
Review
Cell Biology
Rob Willemsen, R. Frank Kooy
Summary: Fragile X-related disorders are caused by expanded CGG repeats in the FMR1 gene and can manifest as either neurodegenerative or neurodevelopmental disorders. Mouse models have provided valuable insights into these disorders and their translational value for developing targeted therapies for intellectual disability and autism disorders.
DISEASE MODELS & MECHANISMS
(2023)
Article
Immunology
Zhe Zhang, LiHua Shi, Li Song, Kelly Maurer, Xue Zhao, Elaine H. Zackai, Daniel E. McGinn, T. Blaine Crowley, Donna M. McDonald McGinn, Kathleen E. Sullivan
Summary: Chromosome 22q11.2 deletion syndrome is a common inborn error of immunity often characterized by low T cell numbers and later complications such as atopy and autoimmunity. This study found altered CD4 T cell chromatin in individuals with 22q11.2 deletion, reflecting qualitative changes that may contribute to the disease mechanism alongside the known quantitative defects.
JOURNAL OF CLINICAL IMMUNOLOGY
(2021)
Review
Clinical Neurology
Michael Bayat, Allan Bayat
Summary: This article reviews the neurological manifestations of 22q11.2 deletion syndrome, including epilepsy, movement disorders, and abnormal neuroradiological findings. The syndrome is associated with increased incidence of various neurological disorders, as well as an increased risk of developing Parkinson's disease and dystonia. The risk of psychiatric disorders, particularly schizophrenia, is also significantly increased.
NEUROLOGICAL SCIENCES
(2022)
Article
Genetics & Heredity
Magdalena Kalinowska, Mathijs B. van der Lei, Michael Kitiashvili, Maggie Mamcarz, Mauricio M. Oliveira, Francesco Longo, Eric Klann
Summary: This study found that de novo protein synthesis was elevated in hippocampal parvalbumin and somatostatin-expressing inhibitory neurons in Fmr1 knockout mice. Cell type-specific deletion of Fmr1 in parvalbumin-expressing neurons resulted in anxiety-like behavior, impaired social behavior, and dysregulated de novo protein synthesis. In contrast, deletion of Fmr1 in somatostatin-expressing neurons did not result in behavioral abnormalities and did not significantly impact de novo protein synthesis.
Review
Pediatrics
Jonathan Cortes-Martin, Nuria Lopez Penuela, Juan Carlos Sanchez-Garcia, Maria Montiel-Troya, Lourdes Diaz-Rodriguez, Raquel Rodriguez-Blanque
Summary: 22q11.2 deletion syndrome is a rare genetic disease characterized by a range of clinical manifestations, including calcium deficits, abnormalities in the palate, heart, and thymus. This review aims to update information on the syndrome based on scientific literature. The patients' daily activities are significantly impaired, but interventions can enhance their social, cognitive, and emotional skills.
Article
Neurosciences
Julia A. Scott, Naomi Goodrich-Hunsaker, Kristopher Kalish, Aaron Lee, Michael R. Hunsaker, Cynthia M. Schumann, Owen T. Carmichael, Tony J. Simon
JOURNAL OF PSYCHIATRY & NEUROSCIENCE
(2016)
Article
Behavioral Sciences
Michael R. Hunsaker, Genevieve K. Smith, Raymond P. Kesner
JOURNAL OF COMPARATIVE PSYCHOLOGY
(2017)
Article
Neurosciences
Erik W. Schluter, Michael R. Hunsaker, Claudia M. Greco, Rob Willemsen, Robert F. Berman
Article
Clinical Neurology
Robert F. Berman, Karl D. Murray, Gloria Arque, Michael R. Hunsaker, H. Juergen Wenzel
Article
Behavioral Sciences
F. Tassone, C. M. Greco, M. R. Hunsaker, A. L. Seritan, R. F. Berman, L. W. Gane, S. Jacquemont, K. Basuta, L. -W. Jin, P. J. Hagerman, R. J. Hagerman
GENES BRAIN AND BEHAVIOR
(2012)
Article
Neurosciences
Michael R. Hunsaker, Kyoungmi Kim, Rob Willemsen, Robert F. Berman
Article
Neurosciences
Michael R. Hunsaker, Victoria Chen, Giang T. Tran, Raymond P. Kesner
Article
Neurosciences
Michael R. Hunsaker, Julia A. Scott, Melissa D. Bauman, Cynthia M. Schumann, David G. Amaral
Article
Critical Care Medicine
Gene G. Gurkoff, Jennifer D. Gahan, Rahil T. Ghiasvand, Michael R. Hunsaker, Ken Van, Jun-feng Feng, Kiarash Shahlaie, Robert F. Berman, Bruce G. Lyeth, Michael M. Folkerts
JOURNAL OF NEUROTRAUMA
(2013)
Article
Behavioral Sciences
Amanda A. Diep, Michael R. Hunsaker, Richard Kwock, Kyoungmi Kim, Rob Willemsen, Robert F. Berman
NEUROBIOLOGY OF LEARNING AND MEMORY
(2012)
Article
Behavioral Sciences
Ramona E. von Leden, Lindsey C. Curley, Gian D. Greenberg, Michael R. Hunsaker, Rob Willemsen, Robert F. Berman
NEUROBIOLOGY OF LEARNING AND MEMORY
(2014)
Review
Behavioral Sciences
Michael R. Hunsaker, Raymond P. Kesner
NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
(2013)
Article
Multidisciplinary Sciences
Michael R. Hunsaker, David G. Amaral
Article
Neurosciences
Dalyir I. Pretto, Michael R. Hunsaker, Christopher L. Cunningham, Claudia M. Greco, Randi J. Hagerman, Stephen C. Noctor, Deborah A. Hall, Paul J. Hagerman, Flora Tassone
TRANSLATIONAL NEURODEGENERATION
(2013)