title: Synaptopathies: synaptic dysfunction in neurological disorders - A review from students to students.
abstract: Synapses are essential components of neurons and allow information to travel coordinately throughout the nervous system to adjust behavior to environmental stimuli and to control body functions, memories, and emotions. Thus, optimal synaptic communication is required for proper brain physiology, and slight perturbations of synapse function can lead to brain disorders. In fact, increasing evidence has demonstrated the relevance of synapse dysfunction as a major determinant of many neurological diseases. This notion has led to the concept of synaptopathies as brain diseases with synapse defects as shared pathogenic features. In this review, which was initiated at the 13th International Society for Neurochemistry Advanced School, we discuss basic concepts of synapse structure and function, and provide a critical view of how aberrant synapse physiology may contribute to neurodevelopmental disorders (autism, Down syndrome, startle disease, and epilepsy) as well as neurodegenerative disorders (Alzheimer and Parkinson disease). We finally discuss the appropriateness and potential implications of gathering synapse diseases under a single term. Understanding common causes and intrinsic differences in disease-associated synaptic dysfunction could offer novel clues toward synapse-based therapeutic intervention for neurological and neuropsychiatric disorders. In this Review, which was initiated at the 13th International Society for Neurochemistry (ISN) Advanced School, we discuss basic concepts of synapse structure and function, and provide a critical view of how aberrant synapse physiology may contribute to neurodevelopmental (autism, Down syndrome, startle disease, and epilepsy) as well as neurodegenerative disorders (Alzheimer's and Parkinson's diseases), gathered together under the term of synaptopathies. Read the Editorial Highlight for this article on page 783.
authors.affiliation: Department of Molecular and Cellular Neurobiology, Nencki Institute of Experimental Biology, Polish Academy of Sciences, Warsaw, Poland.
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Lepeta
authors.affiliation: Institute of Medical Biochemistry Leopoldo de Meis, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.
authors.forename: Mychael V
authors.initials: MV
authors.lastname: Lourenco
authors.affiliation: Department for Neurochemistry and Molecular Biology, Leibniz Institute for Neurobiology Magdeburg, Magdeburg, Germany.
authors.forename: Barbara C
authors.initials: BC
authors.lastname: Schweitzer
authors.affiliation: Laboratory of Amyloidosis and Neurodegeneration, Fundación Instituto Leloir-IIBBA-CONICET, Buenos Aires, Argentina.
authors.forename: Pamela V
authors.initials: PV
authors.lastname: Martino Adami
authors.affiliation: Department of Biochemistry, Institute of Post Graduate Medical Education & Research, Kolkata, West Bengal, India.
authors.forename: Priyanjalee
authors.initials: P
authors.lastname: Banerjee
authors.affiliation: Systems Biology Program, Cellular and Systems Neurobiology, Centre for Genomic Regulation, The Barcelona Institute of Science and Technology, Barcelona, Spain.|Universitat Pompeu Fabra, Barcelona, Spain.
authors.forename: Silvina
authors.initials: S
authors.lastname: Catuara-Solarz
authors.affiliation: Department of Physiology and Biophysics, Virginia Commonwealth University, Richmond, VA, United States of America.
authors.forename: Mario
authors.initials: M
authors.lastname: de La Fuente Revenga
authors.affiliation: Laboratorio de Neurotoxicología, Departamento de Toxicología, Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional, México D.F. 07000, Mexico.
authors.forename: Alain Marc
authors.initials: AM
authors.lastname: Guillem
authors.affiliation: Florey Institute of Neuroscience and Mental Health, University of Melbourne, Victoria, Australia.
authors.forename: Mouna
authors.initials: M
authors.lastname: Haidar
authors.affiliation: Department of Human Anatomy, Cross River University of Technology, Okuku Campus, Cross River, Nigeria.
authors.forename: Omamuyovwi M
authors.initials: OM
authors.lastname: Ijomone
authors.affiliation: The Department of Biological Chemistry, The Edmond and Lily Safra Center for Brain Sciences, The Alexander Grass Center for Bioengineering, The Hebrew University of Jerusalem, Israel.
authors.forename: Bettina
authors.initials: B
authors.lastname: Nadorp
authors.affiliation: Laboratory of Molecular Neuro-Oncology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, United States of America.
authors.forename: Lin
authors.initials: L
authors.lastname: Qi
authors.affiliation: Florey Institute of Neuroscience and Mental Health, University of Melbourne, Victoria, Australia.
authors.forename: Nirma D
authors.initials: ND
authors.lastname: Perera
authors.affiliation: Department of Drug Design and Pharmacology, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark.
authors.forename: Louise K
authors.initials: LK
authors.lastname: Refsgaard
authors.affiliation: Department of Pharmacology, UCL School of Pharmacy, 29-39 Brunswick Square, London, WC1N 1AX, UK.
authors.forename: Kimberley M
authors.initials: KM
authors.lastname: Reid
authors.affiliation: Brain Function Research Group, School of Physiology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
authors.forename: Mariam
authors.initials: M
authors.lastname: Sabbar
authors.affiliation: Department of Biochemistry, Midnapore Medical College, West Bengal University of Health Sciences, West Bengal, India.
authors.forename: Arghyadip
authors.initials: A
authors.lastname: Sahoo
authors.affiliation: Institute for Clinical Neurobiology, Julius-Maximilians-University of Wuerzburg, Wuerzburg, Germany.
authors.forename: Natascha
authors.initials: N
authors.lastname: Schaefer
authors.affiliation: Florey Institute of Neuroscience and Mental Health, University of Melbourne, Victoria, Australia.
authors.forename: Rebecca K
authors.initials: RK
authors.lastname: Sheean
authors.affiliation: Department of Molecular and Cellular Neurobiology, Nencki Institute of Experimental Biology, Polish Academy of Sciences, Warsaw, Poland.
authors.forename: Anna
authors.initials: A
authors.lastname: Suska
authors.affiliation: Department of Neurosciences Uconn Health Center, Farmington, CT, United States of America.
authors.forename: Rajkumar
authors.initials: R
authors.lastname: Verma
authors.affiliation: CNR, Institute of Neuroscience, Milan, Italy.
authors.forename: Cinzia
authors.initials: C
authors.lastname: Vicidomini
authors.affiliation: Florey Institute of Neuroscience and Mental Health, University of Melbourne, Victoria, Australia.
authors.forename: Dean
authors.initials: D
authors.lastname: Wright
authors.affiliation: Department of Lymphoma/Myeloma, The University of Texas MD Anderson Cancer Center, Houston, TX, United States of America.
authors.forename: Xing-Ding
authors.initials: XD
authors.lastname: Zhang
authors.affiliation: Department for Neurochemistry and Molecular Biology, Leibniz Institute for Neurobiology Magdeburg, Magdeburg, Germany. seidenc@lin-magdeburg.de.|Center for Behavioral Brain Sciences (CBBS) Magdeburg, Magdeburg, Germany. seidenc@lin-magdeburg.de.
authors.forename: Constanze
authors.initials: C
authors.lastname: Seidenbecher
mesh_terms: D000328:Adult; D002648:Child; D006801:Humans; D009422:Nervous System Diseases / Q000473:pathology*; D019636:Neurodegenerative Diseases / Q000473:pathology; D013569:Synapses / Q000473:pathology*
keywords: Alzheimer disease; Down syndrome; autism; epilepsy; hyperekplexia; synapses