Megalencephalic leukoencephalopathy with subcortical cysts: a personal biochemical retrospective

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dc.contributor.authorEstévez, Raúl
dc.contributor.authorElorza-Vidal, Xabier
dc.contributor.authorGaitán-Peñas, Héctor
dc.contributor.authorPérez-Rius, Carla
dc.contributor.authorArmand-Ugón, Mercedes
dc.contributor.authorAlonso-Gardón, Marta
dc.contributor.authorXicoy-Espaulella, Efren
dc.contributor.authorSirisi, Sònia
dc.contributor.authorArnedo, Tanit
dc.contributor.authorCapdevila-Nortes, Xavier
dc.contributor.authorLópez-Hernández, Tania
dc.contributor.authorMontolio, Marisol
dc.contributor.authorDuarri, Anna
dc.contributor.authorTeijido Hermida, Óscar
dc.contributor.authorBarrallo-Gimeno, Alejandro
dc.contributor.authorPalacín, Manuel
dc.contributor.authorNunes, Virginia
dc.contributor.departmentCiencias de la Saludes_ES
dc.contributor.departmentOsasun Zientziakeu
dc.date.accessioned2025-03-31T07:49:26Z
dc.date.available2025-03-31T07:49:26Z
dc.date.issued2018-01-08
dc.date.updated2025-03-31T07:44:03Z
dc.description.abstractMegalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of leukodystrophy characterized by dysfunction of the role of glial cells in controlling brain fluid and ion homeostasis. Patients affected by MLC present macrocephaly, cysts and white matter vacuolation, which lead to motor and cognitive impairments. To date, there is no treatment for MLC, only supportive care. MLC is caused by mutations in the MLC1 and GLIALCAM genes. MLC1 is a membrane protein with low identity to the Kv1.1 potassium channel and GlialCAM belongs to an adhesion molecule family. Both proteins form a complex with an as-yet-unknown function that is expressed mainly in the astrocytes surrounding the blood-brain barrier and in Bergmann glia. GlialCAM also acts as an auxiliary subunit of the chloride channel ClC-2, thus regulating its localization at cell-cell junctions and modifying its functional properties by affecting the common gate of ClC-2. Recent studies in Mlc1-, GlialCAM- and Clcn2-knockout mice or Mlc1-knockout zebrafish have provided fresh insight into the pathophysiology of MLC and further details about the molecular interactions between these three proteins. Additional studies have shown that GlialCAM/MLC1 also regulates other ion channels (TRPV4, VRAC) or transporters (Na+/K+-ATPase) in a not-understood manner. Furthermore, it has been shown that GlialCAM/ MLC1 may influence signal transduction mechanisms, thereby affecting other proteins not related with transport such as the EGF receptor. Here, we offer a personal biochemical retrospective of the work that has been performed to gain knowledge of the pathophysiology of MLC, and we discuss future strategies that may be used to identify therapeutic solutions for MLC patients.en
dc.description.sponsorshipThis work was supported in part by grants from the European Leukodystrophies Association (ELA) Research Foundation (ELA2012- 014C2B) to RE and VN, Ministerio de Ciencia e Innovación (SAF2012-31486 to RE and SAF2015-70377 to RE and ABG), Generalitat de Catalunya ((SGR2014-1178) to RE), (SGR2014-541) to VN)), Instituto de Salud Carlos III (bodies linked to MICINN and FEDER): (ERARE) to RE, FIS PI13/00121 to VN.
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dc.format.mimetypeapplication/zipen
dc.identifier.citationEstévez, R., Elorza-Vidal, X., Gaitán-Peñas, H., Pérez-Rius, C., Armand-Ugón, M., Alonso-Gardón, M., Xicoy-Espaulella, E., Sirisi, S., Arnedo, T., Capdevila-Nortes, X., López-Hernández, T., Montolio, M., Duarri, A., Teijido, O., Barrallo-Gimeno, A., Palacín, M., Nunes, V. (2018). Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemical retrospective. European Journal of Medical Genetics, 61(1), 50-60. https://doi.org/10.1016/j.ejmg.2017.10.013.
dc.identifier.doi10.1016/j.ejmg.2017.10.013
dc.identifier.issn1769-7212
dc.identifier.urihttps://academica-e.unavarra.es/handle/2454/53858
dc.language.isoeng
dc.publisherElsevier
dc.relation.ispartofEuropean Journal of Medical Genetics (2018), vol. 6, núm. 1
dc.relation.projectIDinfo:eu-repo/grantAgreement/MINECO//SAF2012-31486/ES/
dc.relation.projectIDinfo:eu-repo/grantAgreement/MINECO//SAF2015-70377-R/ES/
dc.relation.projectIDinfo:eu-repo/grantAgreement/MINECO//PI13%2F00121/ES/
dc.relation.publisherversionhttps://doi.org/10.1016/j.ejmg.2017.10.013
dc.rights© 2017 Elsevier Masson SAS. This manuscript version is made available under the CC-BY-NC-ND 4.0.
dc.rights.accessRightsinfo:eu-repo/semantics/openAccess
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectLeukodystrophyen
dc.subjectMLC1en
dc.subjectGlialCAMen
dc.subjectClC-2en
dc.subjectAstrocyteen
dc.titleMegalencephalic leukoencephalopathy with subcortical cysts: a personal biochemical retrospectiveen
dc.typeinfo:eu-repo/semantics/article
dc.type.versioninfo:eu-repo/semantics/acceptedVersion
dspace.entity.typePublication
relation.isAuthorOfPublication2af87636-fad2-48e3-b5f6-f4a704d93613
relation.isAuthorOfPublication.latestForDiscovery2af87636-fad2-48e3-b5f6-f4a704d93613

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