Gentzane Sánchez-Elexpuru1,2, José M Serratosa1,2, Marina P Sánchez1,2. 1. Laboratory of Neurology, IIS-Jiménez Díaz Foundation, UAM, Madrid, Spain. 2. Biomedical Research Network Center on Rare Diseases (CIBERER), Madrid, Spain.
Abstract
OBJECTIVE: To search for new therapies aimed at ameliorating the neurologic symptoms and epilepsy developing in patients with Lafora disease. METHODS: Lafora disease is caused by loss-of-function mutations in either the EPM2A or EPM2B genes. Epm2a-/- and Epm2b-/- mice display neurologic and behavioral abnormalities similar to those found in patients. Selenium is a potent antioxidant and its deficiency has been related to the development of certain diseases, including epilepsy. In this study, we investigated whether sodium selenate treatment improved the neurologic alterations and the hyperexcitability present in the Epm2b-/- mouse model. RESULTS: Sodium selenate ameliorates some of the motor and memory deficits and the sensitivity observed with pentylenetetrazol (PTZ) treatments in Epm2b-/- mice. Neuronal degeneration and gliosis were also diminished after sodium selenate treatment. SIGNIFICANCE: Sodium selenate could be beneficial for ameliorating some symptoms that present in patients with Lafora disease. Wiley Periodicals, Inc.
OBJECTIVE: To search for new therapies aimed at ameliorating the neurologic symptoms and epilepsy developing in patients with Lafora disease. METHODS:Lafora disease is caused by loss-of-function mutations in either the EPM2A or EPM2B genes. Epm2a-/- and Epm2b-/- mice display neurologic and behavioral abnormalities similar to those found in patients. Selenium is a potent antioxidant and its deficiency has been related to the development of certain diseases, including epilepsy. In this study, we investigated whether sodium selenate treatment improved the neurologic alterations and the hyperexcitability present in the Epm2b-/- mouse model. RESULTS:Sodium selenate ameliorates some of the motor and memory deficits and the sensitivity observed with pentylenetetrazol (PTZ) treatments in Epm2b-/- mice. Neuronal degeneration and gliosis were also diminished after sodium selenate treatment. SIGNIFICANCE: Sodium selenate could be beneficial for ameliorating some symptoms that present in patients with Lafora disease. Wiley Periodicals, Inc.
Authors: Janet van Eersel; Yazi D Ke; Xin Liu; Fabien Delerue; Jillian J Kril; Jürgen Götz; Lars M Ittner Journal: Proc Natl Acad Sci U S A Date: 2010-07-19 Impact factor: 11.205
Authors: J M Serratosa; P Gómez-Garre; M E Gallardo; B Anta; D B de Bernabé; D Lindhout; P B Augustijn; C A Tassinari; R M Malafosse; M Topcu; D Grid; C Dravet; S F Berkovic; S R de Córdoba Journal: Hum Mol Genet Date: 1999-02 Impact factor: 6.150
Authors: Nigel C Jones; Thanh Nguyen; Niall M Corcoran; Dennis Velakoulis; Tracy Chen; Robert Grundy; Terence J O'Brien; Christopher M Hovens Journal: Neurobiol Dis Date: 2011-12-11 Impact factor: 5.996
Authors: Shi-Jie Liu; Ping Zheng; David K Wright; Gabi Dezsi; Emma Braine; Thanh Nguyen; Niall M Corcoran; Leigh A Johnston; Christopher M Hovens; Jamie N Mayo; Matthew Hudson; Sandy R Shultz; Nigel C Jones; Terence J O'Brien Journal: Brain Date: 2016-06-11 Impact factor: 13.501
Authors: M Kathryn Brewer; Annette Uittenbogaard; Grant L Austin; Dyann M Segvich; Anna DePaoli-Roach; Peter J Roach; John J McCarthy; Zoe R Simmons; Jason A Brandon; Zhengqiu Zhou; Jill Zeller; Lyndsay E A Young; Ramon C Sun; James R Pauly; Nadine M Aziz; Bradley L Hodges; Tracy R McKnight; Dustin D Armstrong; Matthew S Gentry Journal: Cell Metab Date: 2019-07-25 Impact factor: 27.287
Authors: Lori Israelian; Silvia Nitschke; Peixiang Wang; Xiaochu Zhao; Ami M Perri; Jennifer P Y Lee; Brandy Verhalen; Felix Nitschke; Berge A Minassian Journal: J Neurochem Date: 2020-10-10 Impact factor: 5.546