Article
Biology
Caroline B. Ferreira, Talita M. Silva, Phelipe E. Silva, Claudio L. Castro, Catherine Czeisler, Jose J. Otero, Ana C. Takakura, Thiago S. Moreira
Summary: Mutations in the Phox2b gene, specifically the non-polyalanine repeat expansion mutations (NPARM) form, were found to affect respiratory control and the number of certain neurons. This study contributes to our understanding of the neuropathology of congenital central hypoventilation syndrome (CCHS) and provides new evidence for the mechanisms underlying NPARM CCHS.
Article
Pediatrics
Jacqueline Neubauer, Anna-Lena Forst, Richard Warth, Christian Peter Both, Cordula Haas, Joerg Thomas
Summary: Gene variants involved in respiratory chemoreception may play a role in a minority of SIDS cases, but they are not the dominant factor.
PEDIATRIC RESEARCH
(2022)
Article
Biochemistry & Molecular Biology
Esteban Diaz-Jara, Hugo S. Diaz, Angelica Rios-Gallardo, Domiziana Ortolani, David C. Andrade, Camilo Toledo, Katherin V. Pereyra, Karla Schwarz, Gigliola Ramirez, Fernando C. Ortiz, Marcelo E. Andia, Rodrigo Del Rio
Summary: Enhanced central chemoreflex drive and irregular breathing are characteristic features of heart failure (HF). This study found that HF rats have high levels of ROS in the RTN, which are closely related to the enhanced central chemoreflex and breathing disorders. Exercise training increases antioxidant defense in the RTN, reduces ROS formation, and restores normal central chemoreflex drive and breathing regularity in HF rats.
FREE RADICAL BIOLOGY AND MEDICINE
(2021)
Article
Multidisciplinary Sciences
Coralie Herent, Severine Diem, Giovanni Usseglio, Gilles Fortin, Julien Bouvier
Summary: Through neural circuit tracing and activity interference in mice, we have discovered two systems in the central locomotor network that enhance respiration in relation to running. One system involves the mesencephalic locomotor region (MLR) and the other involves the lumbar enlargement of the spinal cord. These findings expand our understanding of respiratory hyperpnea and the functional implications of cell types and pathways traditionally associated with locomotion or respiration.
NATURE COMMUNICATIONS
(2023)
Article
Neurosciences
Yinchao Hao, Ziqian Wei, Shuang Wang, Pei An, Yifei Huang, Lingxiao Yu, Mengchu Zhu, Hongxiao Yu, Fang Yuan, Sheng Wang
Summary: The disrupted medullary leptin signaling contributes to obesity-related hypoventilation, and inhibiting the upregulated SOCS3 in the NTS and RTN can alleviate this condition.
Editorial Material
Clinical Neurology
Laura Lazzarini Wo, Reem Itani, Thomas G. Keens, Araz Marachelian, Jianling Ji, Iris A. Perez
Summary: Congenital central hypoventilation syndrome (CCHS) is a rare condition caused by pathogenic variants of the PHOX2B gene. There have been case reports describing variable phenotypes and mutations of the PHOX2B gene, not commonly tested for, that may challenge the classic definition of CCHS. Our cases highlight the dilemmas in making a diagnosis of CCHS and emphasize the need for expanded genetic testing, including for PHOX2B gene deletion.
JOURNAL OF CLINICAL SLEEP MEDICINE
(2023)
Article
Neurosciences
Luiz M. Oliveira, Nathan A. Baertsch, Thiago S. Moreira, Jan-Marino Ramirez, Ana C. Takakura
Summary: Parkinson's disease leads to breathing abnormalities, with the 6-OHDA rodent model showing reduced respiratory frequency associated with PD. PD mice exhibit a decreased number of critical respiratory neurons, resulting in respiratory deficits specific to inspiratory rhythm generation.
JOURNAL OF NEUROSCIENCE
(2021)
Article
Clinical Neurology
Ajay S. Kasi, Hong Li, Taryn J. Jurgensen, Lokesh Guglani, Thomas G. Keens, Iris A. Perez
Summary: Patients with CCHS PHOX2B NPARM exhibit variable phenotypes, highlighting the importance of individualized care plans for each patient. The type of NPARM and their location on the PHOX2B gene may play a critical role in determining the severity of phenotypes displayed by each patient.
JOURNAL OF CLINICAL SLEEP MEDICINE
(2021)
Article
Pediatrics
Prakarn Tovichien, Krittin Rattananont, Narathorn Kulthamrongsri, Mongkol Chanvanichtrakool, Buranee Yangthara
Summary: This report presents a case of neonatal CCHS and describes the diagnostic work up in a resource-limited setting. The diagnosis of CCHS was confirmed through genetic testing, and respiratory care training was provided to the patient's caregivers.
Review
Neurosciences
Simona Di Lascio, Roberta Benfante, Silvia Cardani, Diego Fornasari
Summary: Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder caused by heterozygous mutations in the PHOX2B gene, leading to hypoventilation due to autonomic control failure. The underlying pathogenetic mechanism is still unclear, and there is currently no curative treatment for CCHS.
FRONTIERS IN NEUROSCIENCE
(2021)
Article
Physiology
Anthony L. Marullo, Jordan D. Bird, Anna-Maria Ciorogariu-Ivan, Lindsey M. Boulet, Nicholas D. J. Strzalkowski, Trevor A. Day
Summary: The study investigated the effects of acute oral glucose ingestion on the central respiratory chemoreceptor complex (CCRC) reactivity. While glucose ingestion resulted in higher blood glucose levels and metabolic rate, it did not alter ventilatory recruitment threshold or CCRC responses.
RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Reihaneh Khorasanian, Marzieh Mojbafan, Nastaran Khosravi
Summary: Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder caused by mutations in the PHOX2B gene. The genetic analysis of a one-month-old CCHS baby girl in Iran revealed a heterozygous duplication in exon 3, resulting in a polyalanine repeat expansion to 27 repeats. The mutation was found to be pathogenic and a denovo mutation in the family, with potential implications for prenatal or pre-implantation diagnosis.
MOLECULAR BIOLOGY REPORTS
(2021)
Article
Multidisciplinary Sciences
Avin Veerakumar, Andrea R. Yung, Yin Liu, Mark A. Krasnow
Summary: This study provides insights into the molecular and functional diversity of cardiac parasympathetic control circuit in mice, revealing two distinct subtypes of neurons that control cardiac function and coordinate cardiac and pulmonary function. These findings have implications for the treatment of cardiac and pulmonary diseases and the understanding of control and coordination circuits of other organs.
Article
Engineering, Multidisciplinary
Yang Zhao, Yong Peng, Yudong Wen, Lingjun Han, Yanhong Yan, Xueying Dong, Hui Zhang, Zheng Zhao, Xiaoyue Liu
Summary: This study aims to explore the motor nuclei in the medulla oblongata of carp and identifies the nuclei responsible for steering and forward motion through electrical and chemical stimulation experiments. By adjusting the stimulation parameters, quantitative control of carp motion can be achieved, providing an experimental foundation for accurate control of carp robots.
JOURNAL OF BIONIC ENGINEERING
(2023)
Article
Pediatrics
Federica Porcaro, Maria Giovanna Paglietti, Claudio Cherchi, Alessandra Schiavino, Maria Beatrice Chiarini Testa, Renato Cutrera
Summary: CCHS patients with more severe phenotypes are associated with a higher number of polyalanine repetitions or non-polyalanine repeat expansion mutations. Although invasive ventilation is often required, advancements in management skills and technology have improved therapeutic approaches for this population.
FRONTIERS IN PEDIATRICS
(2021)