Article
Cell Biology
Ludan Xiang, Qian Wu, Huankun Sun, Xuemeng Miao, Zhaoting Lv, Huitao Liu, Lan Chen, Yanrou Gu, Jianjun Chen, Siyao Zhou, Huixia Jiang, Siyu Du, Yixin Zhou, Hui Dong, Yiren Fan, Shuangda Miao, Qi Lu, Liyun Chang, Hui Wang, Yi Lu, Xingxing Xu, Wei Wang, Zhihui Huang
Summary: This study found that SARM1 knockout mice exhibit autism-like behaviors, with a decrease in the number of inhibitory neurons and an increase in excitatory synaptic input. These results suggest that SARM1 deficiency may be involved in the pathogenesis of ASD.
CELL DEATH & DISEASE
(2022)
Article
Geriatrics & Gerontology
Satoru Ato, Hiroshi Matsunami, Riki Ogasawara
Summary: The purpose of this study was to investigate if aging affects the influence of nutritional status on muscle protein metabolism during contraction. The study found that there were no differences in muscle protein synthesis between young and old mice in the fasted state. However, in the fed state, young mice had higher basal muscle protein synthesis and contraction only increased muscle protein synthesis in young mice. The results indicate that aging impairs the integration of signals from muscle contraction and nutrition, leading to anabolic resistance to muscle contraction in the postprandial state.
JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Rui Chen, Tingbin Ma, Shiyue Du, Junyu Luo, Huan Zhang, Xuan Xu, Zhijian Cao, Zhangqi Yuan, Hao Sun, Mugen Liu, Bo Xiong, Qinghua Shi, Jing Yu Liu
Summary: The testis-specific gene 4930590J08Rik plays a crucial role in male reproduction, as evidenced by its unique expression pattern and the phenotypes observed in knockout mice. This gene disruption leads to impairment in spermatogenesis, reduced sperm count, defective acrosome reactions, and decreased sperm motility. The transcriptome analysis of testes from knockout mice revealed metabolic dysregulation, specifically oxidative phosphorylation deficiency and increased reliance on anaerobic glycolysis. These findings provide novel insights into idiopathic male infertility and present 4930590J08Rik knockout mice as a valuable model for further investigations.
Article
Neurosciences
Limin Wu, Brian T. Kalish, Benjamin Finander, Tian Cao, Gina Jin, Taha Yahya, Emily S. Levy, Bharti Kukreja, Eliza Sophie LaRovere, Joon Yong Chung, Eng H. Lo, Alexander Brown-Whalen, Joseph El Khoury, David L. Kaplan, Michael J. Whalen
Summary: Repetitive mild traumatic brain injury (mTBI) in children and adolescents is associated with neurologic sequelae and neurodegenerative diseases later in life. However, the biological mechanisms connecting early life mTBI to neurodegeneration are not well understood. This study used a mouse model of repetitive closed head injury in adolescent mice and found evidence of neuronal inflammasome activation and impaired proteostasis as key mechanisms linking repetitive mTBI during adolescence to neurologic dysfunction and neurodegeneration later in life.
JOURNAL OF NEUROSCIENCE
(2022)
Article
Multidisciplinary Sciences
Andrea Aguilar-Vazquez, Efrain Chavarria-Avila, Mario Salazar-Paramo, Juan Armendariz-Borunda, Guillermo Toriz-Gonzalez, Marcela Rodriguez-Baeza, Ana Sandoval-Rodriguez, Arisbeth Villanueva-Perez, Marisol Godinez-Rubi, Jose-David Medina-Preciado, Ingrid Lundberg, Yesenia Lozano-Torres, Cynthia-Alejandra Gomez-Rios, Oscar Pizano-Martinez, Erika-Aurora Martinez-Garcia, Beatriz-Teresita Martin-Marquez, Sergio Duran-Barragan, Brenda-Lucia Palacios-Zarate, Arcelia Llamas-Garcia, Livier Gomez-Limon, Monica Vazquez-Del Mercado
Summary: This study explored the muscle fiber ultrastructure in Idiopathic Inflammatory Myopathies (IIM), especially in Inclusion Body Myositis, using Scanning Electron Microscopy (SEM) and characterized the immunological profile. Changes in muscle fiber morphology and structure were observed in relation to muscle strength and muscle enzymes.
SCIENTIFIC REPORTS
(2022)
Article
Neurosciences
Sonja Chu, Matthew Margerison, Sathesan Thavabalasingam, Edward B. O'Neil, Yuan-Fang Zhao, Rutsuko Ito, Andy C. H. Lee
Summary: The study suggested that the perirhinal cortex, rather than the anterior hippocampus, was predominantly associated with object-based approach-avoidance conflict resolution in neurologically healthy human participants. This implies that the anterior hippocampus may not contribute equally to all learned approach-avoidance conflict scenarios.
Article
Multidisciplinary Sciences
Mahrou Sadri, Haichuan Wang, Toshinobu Kuroishi, Yong Li, Janos Zempleni
Summary: HLCS deficiency can lead to severe carboxylase deficiency, but early diagnosis and biotin treatment can prevent fatal consequences. This study successfully developed an HLCS conditional knockout mouse model and found that HLCS knockout has lethal effects on embryo survival.
Article
Biology
Pauline Labbe, Victoria Munoz Goyette, Nathalie Thorin-Trescases, Louis Villeneuve, Ines Desanlis, Constance Delwarde, Yan-Fen Shi, Cecile Martel, Carol Yu, Azadeh Alikashani, Maya Mamarbachi, Frederic Lesage, Samuel Mathieu, Jean-Claude Tardif, Patrick Mathieu, Marie Kmita, Eric Thorin
Summary: A study has found that Angiopoietin-like 2 (ANGPTL2) plays a crucial role in valve development during embryogenesis. Knockout mice for the Angptl2 gene exhibit abnormal thickening of the valve leaflets and dysregulation in the balance between cell apoptosis, senescence, and proliferation, as well as a decrease in Notch signaling. These abnormalities lead to spontaneous aortic valve stenosis in adult mice.
COMMUNICATIONS BIOLOGY
(2022)
Article
Multidisciplinary Sciences
Oscar Aubi, Karina S. Prestegard, Kunwar Jung-KC, Tie-Jun Sten Shi, Ming Ying, Ann Kari Grindheim, Tanja Scherer, Arve Ulvik, Adrian McCann, Endy Spriet, Beat Thony, Aurora Martinez
Summary: Phenylketonuria (PKU) is caused by autosomal recessive variants in phenylalanine hydroxylase (PAH) and can lead to neurotoxicity. Here the authors describe a mouse model of PKU based on a mutation in phenylalanine hydroxylase (R261Q) which replicates traits of this disease and shows a proteostasis defect and oxidative stress, implying a gain-of-function contribution to the disease phenotype.
NATURE COMMUNICATIONS
(2021)
Article
Multidisciplinary Sciences
Ester Piovesana, Claudia Magrin, Matteo Ciccaldo, Martina Sola, Manolo Bellotto, Maurizio Molinari, Stephanie Papin, Paolo Paganetti
Summary: Neurodegenerative disorders are characterized by the brain deposition of insoluble amyloidogenic proteins, such as alpha-synuclein or Tau, and the concomitant deterioration of cell functions such as the autophagy-lysosomal pathway (ALP). Inhibition of lysosomal enzyme glucocerebrosidase causes lysosomal dysfunction and contributes to Tau accumulation. Further studies on strategies to alleviate ALP dysfunction are needed for the treatment of neurodegenerative diseases and lysosomal storage disorders (LSD).
SCIENTIFIC REPORTS
(2023)
Article
Multidisciplinary Sciences
Qian Wang, Ying Kong, Ding-Yu Wu, Ji-Hong Liu, Wei Jie, Qiang-Long You, Lang Huang, Jian Hu, Huai-De Chu, Feng Gao, Neng-Yuan Hu, Zhou-Cai Luo, Xiao-Wen Li, Shu-Ji Li, Zhao-Fa Wu, Yu-Long Li, Jian-Ming Yang, Tian-Ming Gao
Summary: Astrocytes play a role in the pathophysiology of autism spectrum disorder (ASD). The study demonstrates that IP3R2 conditional KO mice exhibit ASD-like behaviors, and identifies astrocyte-derived ATP as a modulator of these behaviors in mice.
NATURE COMMUNICATIONS
(2021)
Article
Cell Biology
Vivian Hwa
Summary: Growth hormone promotes human postnatal growth by regulating IGF-I production through the GH receptor-JAK2-STAT5B signaling pathway. Mutations associated with STAT5B deficiency can cause GHI syndrome and immune dysfunction, potentially leading to fatal consequences. Somatic activating STAT5B mutations are linked to immune abnormalities but do not impact human linear growth.
MOLECULAR AND CELLULAR ENDOCRINOLOGY
(2021)
Article
Medicine, Research & Experimental
Trace Thome, Ravi A. Kumar, Sarah K. Burke, Ram B. Khattri, Zachary R. Salyers, Rachel C. Kelley, Madeline D. Coleman, Demetra D. Christou, Russell T. Hepple, Salvatore T. Scali, Leonardo F. Ferreira, Terence E. Ryan
Summary: This study investigated the mechanisms of skeletal muscle mitochondrial impairment in mice with adenine-induced CKD. It found reductions in mitochondrial oxidative phosphorylation and identified unknown uremic metabolites associated with the degree of mitochondrial impairment. Additionally, CKD mice showed muscle atrophy, protein degradation, and morphological changes in the neuromuscular junction.
Article
Geriatrics & Gerontology
Francesca M. Alves, Kai Kysenius, Marissa K. Caldow, Justin P. Hardee, Peter J. Crouch, Scott Ayton, Ashley I. Bush, Gordon S. Lynch, Rene Koopman
Summary: The study found that increased iron levels in muscles of old mice lead to exacerbated lipid peroxidation, increased susceptibility to ischemia-reperfusion injury, and impaired muscle regeneration. Treatment with deferiprone did not significantly improve muscle structure.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2021)
Article
Behavioral Sciences
Makoto Nasu, Yukiko Abe, Aya Matsushima, Masashi Yamanaka, Naoyuki Kozuki, Shintaroh Ueda
Summary: Mammalian adult females develop specialized body parts and behavior, and the Pou3f2 gene is involved in the establishment of these characteristics. Impaired reproductive performance and maternal behavior in mice lacking Pou3f2 suggests the gene's role in maternal care.
BEHAVIOURAL BRAIN RESEARCH
(2022)
Article
Multidisciplinary Sciences
Natsumi Shibano, Mio Yamazaki, Tomoki Arima, Konami Abe, Marin Kuroda, Yuki Kobayashi, Shigeyoshi Itohara, Teiichi Furuichi, Yoshitake Sano
SCIENTIFIC REPORTS
(2020)
Article
Neurosciences
Shigeo Miyata, Toshikazu Kakizaki, Kazuyuki Fujihara, Hideru Obinata, Touko Hirano, Junichi Nakai, Mika Tanaka, Shigeyoshi Itohara, Masahiko Watanabe, Kenji F. Tanaka, Manabu Abe, Kenji Sakimura, Yuchio Yanagawa
Summary: The study developed Gad1(tTA/STOP-tetO) biallelic knock-in mice, where GAD67 protein expression was reduced and GABA content decreased after doxycycline treatment, leading to emotional abnormalities in these mice. These findings provide valuable insights into the neurobiological mechanisms of emotional abnormalities related to psychiatric disorders.
Article
Biochemistry & Molecular Biology
Lenin C. Kandasamy, Mina Tsukamoto, Vitaliy Banov, Sambuu Tsetsegee, Yutaro Nagasawa, Mitsuhiro Kato, Naomichi Matsumoto, Junji Takeda, Shigeyoshi Itohara, Sonoko Ogawa, Larry J. Young, Qi Zhang
Summary: Posttranslational modification with glycosylphosphatidylinositol (GPI) is a conserved mechanism in eukaryotes, involved in inherited glycosylphosphatidylinositol deficiency (IGD) and affecting brain neurons, leading to impaired fear memory and epilepsy. Mouse models with PIGA gene deficits suggest that mutations may cause intellectual developmental disorders and other neurological issues.
HUMAN MOLECULAR GENETICS
(2021)
Article
Biochemical Research Methods
Ayako Ajima, Takamasa Yoshida, Kunio Yaguchi, Shigeyoshi Itohara
Summary: The study identified a microtremor resembling essential tremor in mice lacking netrin-G2, and successfully quantified it using a new tremor detection system. The system also proved effective in detecting low dose harmaline-induced tremors that had previously been difficult to detect. Different effects of medications and stress stimuli on tremors were observed between human essential tremors and microtremors in netrin-G2 KO mice, highlighting the heterogeneous nature of tremor conditions.
JOURNAL OF NEUROSCIENCE METHODS
(2021)
Article
Neurosciences
Hisako Sugimoto, Takuro Horii, Jun-Na Hirota, Yoshitake Sano, Yo Shinoda, Ayumu Konno, Hirokazu Hirai, Yasuki Ishizaki, Hajime Hirase, Izuho Hatada, Teiichi Furuichi, Tetsushi Sadakata
Summary: The HapMap Project aims to discover relationships between human genetic variations and health, with the PHYHIPL gene found to impact cerebellum-related diseases. Further research is needed to understand the function of the PHYHIPL gene and its implications in human health.
Article
Neurosciences
Shuhei Fujima, Ryosuke Yamaga, Haruka Minami, Shota Mizuno, Yo Shinoda, Tetsushi Sadakata, Manabu Abe, Kenji Sakimura, Yoshitake Sano, Teiichi Furuichi
Summary: CAPS2 regulates the release of the social modulatory peptide oxytocin (OXT) through dense-core vesicle (DCV) exocytosis, impacting social behavior in mice. Deficiency in CAPS2 leads to reduced plasma OXT levels but increased levels in the hypothalamus and pituitary, indicating insufficient release. The impaired social interaction and recognition behavior in Caps2 KO mice can be ameliorated by intranasal administration of exogenous OXT.
JOURNAL OF NEUROSCIENCE
(2021)
Article
Neurosciences
Youichi Iwai, Katsuya Ozawa, Kazuko Yahagi, Tsuneko Mishima, Sonam Akther, Camilla Trang Vo, Ashley Bomin Lee, Mika Tanaka, Shigeyoshi Itohara, Hajime Hirase
Summary: The study demonstrates that GPCR-triggered Ca2+ elevation in cortical astrocytes has causal impacts on neuronal activity and behavior, including neuronal activity inhibition, sensory evoked response depression, behavioral changes, and memory enhancement.
FRONTIERS IN NEURAL CIRCUITS
(2021)
Article
Multidisciplinary Sciences
Chiaki Ishii, Natsumi Shibano, Mio Yamazaki, Tomoki Arima, Yuna Kato, Yuki Ishii, Yo Shinoda, Yugo Fukazawa, Tetsushi Sadakata, Yoshitake Sano, Teiichi Furuichi
Summary: CAPS1 is a key molecule involved in vesicular exocytosis, but its role in synaptic plasticity and learning behavior remains unclear. Studies showed impaired synaptic plasticity and learning behavior in Caps1 cKO mice, with reduced docked vesicles in the hippocampal CA3 region and impaired long-term potentiation in CA1 and CA3 regions. These findings suggest that CAPS1 plays a crucial role in hippocampal synaptic release and plasticity, which is essential for hippocampus-associated learning.
SCIENTIFIC REPORTS
(2021)
Article
Biochemistry & Molecular Biology
Takumi Nakamura, Kazuo Nakajima, Yuki Kobayashi, Shigeyoshi Itohara, Takaoki Kasahara, Takashi Tsuboi, Tadafumi Kato
Summary: Bipolar disorder is a common mental illness with potential association with de novo mutations. Studies found de novo mutations in genes EHD1 and MACF1 were related to patients with bipolar disorder, and knock-in mouse models showed behavioral phenotypes associated with the disorder.
HUMAN MOLECULAR GENETICS
(2021)
Article
Cell Biology
Chihiro Yoshihara, Kenichi Tokita, Teppo Maruyama, Misato Kaneko, Yousuke Tsuneoka, Kansai Fukumitsu, Eri Miyazawa, Kazutaka Shinozuka, Arthur J. Huang, Katsuhiko Nishimori, Thomas J. McHugh, Minoru Tanaka, Shigeyoshi Itohara, Kazushige Touhara, Kazunari Miyamichi, Kumi O. Kuroda
Summary: Maternal mammals exhibit heightened motivation to care for offspring, and this behavior is at least partially mediated by upregulation of amylin-Calcr signaling in distinct neuronal populations of the medial preoptic area. These Calcr+ MPOA neurons are required for both maternal and allomaternal nurturing behaviors, with modified connectomics postpartum potentially influencing risk-taking maternal care.
Article
Multidisciplinary Sciences
Ayumi Yamada, Takae Hirasawa, Kayako Nishimura, Chikako Shimura, Naomi Kogo, Kei Fukuda, Madoka Kato, Masaki Yokomori, Tetsutaro Hayashi, Mana Umeda, Mika Yoshimura, Yoichiro Iwakura, Itoshi Nikaido, Shigeyoshi Itohara, Yoichi Shinkai
Summary: The supply of GLP from a young age was able to improve behavioral abnormalities in Ehmt1(Delta/+) mice, while neuron-specific GLP supply postnatally reversed the reduction of H3K9me2 and spine number in these mice, even though it did not fully improve the abnormal behaviors. The study also found that inflammatory genes like IL-1 beta and activated microglial cells increased in the Ehmt1(Delta/+) brain, but these phenotypes were reversed by neuron-specific postnatal GLP supply.
Article
Multidisciplinary Sciences
Kansai Fukumitsu, Misato Kaneko, Teppo Maruyama, Chihiro Yoshihara, Arthur J. Huang, Thomas J. McHugh, Shigeyoshi Itohara, Minoru Tanaka, Kumi O. Kuroda
Summary: Social animals experience stress upon isolation and actively engage in contact with conspecifics. This study demonstrates that amylin-calcitonin receptor signaling in the medial preoptic area mediates affiliative social contacts among adult female mice. Isolation leads to active contact-seeking behavior and depressive-like behavior, along with a decrease in Amylin mRNA expression. Reuniting with peers induces physical contacts and a recovery of Amylin mRNA expression.
NATURE COMMUNICATIONS
(2022)
Article
Cell Biology
Takayuki Michikawa, Takamasa Yoshida, Satoshi Kuroki, Takahiro Ishikawa, Shinji Kakei, Ryo Kimizuka, Atsushi Saito, Hideo Yokota, Akinobu Shimizu, Shigeyoshi Itohara, Atsushi Miyawaki
Summary: The study demonstrates that the cerebellum utilizes segment-based, distributed-population coding to represent the conditional probability of sensory events.
Correction
Multidisciplinary Sciences
Ayumi Yamada, Takae Hirasawa, Kayako Nishimura, Chikako Shimura, Naomi Kogo, Kei Fukuda, Madoka Kato, Masaki Yokomori, Tetsutaro Hayashi, Mana Umeda, Mika Yoshimura, Yoichiro Iwakura, Itoshi Nikaido, Shigeyoshi Itohara, Yoichi Shinkai
Article
Biology
Yuki Sakamoto, Anna Ishimoto, Yuuki Sakai, Moeko Sato, Ryuichi Nishihama, Konami Abe, Yoshitake Sano, Teiichi Furuichi, Hiroyuki Tsuji, Takayuki Kohchi, Sachihiro Matsunaga
Summary: Researchers developed an improved tissue clearing method, iTOMEI, for fluorescence microscopy of both plant and animal tissues. This method efficiently removes chlorophyll and autofluorescence signals while preserving the desired fluorescence protein signals.
COMMUNICATIONS BIOLOGY
(2022)