학술논문
Understanding the Ultra-Rare Disease Autosomal Dominant Leukodystrophy: an Updated Review on Morpho-Functional Alterations Found in Experimental Models.
Document Type
Academic Journal
Author
Neri I; Cellular Signalling Laboratory, Anatomy Centre, Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, 40126, Bologna, Italy.; Ramazzotti G; Cellular Signalling Laboratory, Anatomy Centre, Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, 40126, Bologna, Italy.; Mongiorgi S; Cellular Signalling Laboratory, Anatomy Centre, Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, 40126, Bologna, Italy.; Rusciano I; Cellular Signalling Laboratory, Anatomy Centre, Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, 40126, Bologna, Italy.; Bugiani M; Department of Pathology, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, 1105, Amsterdam, The Netherlands.; Conti L; Department of Cellular, Computational, and Integrative Biology (CIBIO), Università Degli Studi Di Trento, 38123, Povo-Trento, Italy.; Cousin M; Center for Individualized Medicine and Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA.; Giorgio E; Department of Molecular Medicine, University of Pavia, 27100, Pavia, Italy.; Medical Genetics Unit, IRCCS Mondino Foundation, 27100, Pavia, Italy.; Padiath QS; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, 15261, USA.; Vaula G; Department of Neuroscience, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza, 10126, Turin, Italy.; Cortelli P; IRCCS, Istituto Di Scienze Neurologiche Di Bologna, 40139, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, 40126 , Bologna, Italy.; Manzoli L; Cellular Signalling Laboratory, Anatomy Centre, Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, 40126, Bologna, Italy.; Ratti S; Cellular Signalling Laboratory, Anatomy Centre, Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, 40126, Bologna, Italy. stefano.ratti@unibo.it.
Source
Publisher: Humana Press Country of Publication: United States NLM ID: 8900963 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1559-1182 (Electronic) Linking ISSN: 08937648 NLM ISO Abbreviation: Mol Neurobiol Subsets: MEDLINE
Subject
Language
English
Abstract
Autosomal dominant leukodystrophy (ADLD) is an ultra-rare, slowly progressive, and fatal neurodegenerative disorder associated with the loss of white matter in the central nervous system (CNS). Several years after its first clinical description, ADLD was found to be caused by coding and non-coding variants in the LMNB1 gene that cause its overexpression in at least the brain of patients. LMNB1 encodes for Lamin B1, a protein of the nuclear lamina. Lamin B1 regulates many cellular processes such as DNA replication, chromatin organization, and senescence. However, its functions have not been fully characterized yet. Nevertheless, Lamin B1 together with the other lamins that constitute the nuclear lamina has firstly the key role of maintaining the nuclear structure. Being the nucleus a dynamic system subject to both biochemical and mechanical regulation, it is conceivable that changes to its structural homeostasis might translate into functional alterations. Under this light, this review aims at describing the pieces of evidence that to date have been obtained regarding the effects of LMNB1 overexpression on cellular morphology and functionality. Moreover, we suggest that further investigation on ADLD morpho-functional consequences is essential to better understand this complex disease and, possibly, other neurological disorders affecting CNS myelination.
(© 2023. The Author(s).)
(© 2023. The Author(s).)