GPR37 Receptors and Megalencephalic Leukoencephalopathy with Subcortical Cysts
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of vacuolating leukodystrophy (white matter disorder), which is mainly caused by defects in MLC1 or glial cell adhesion molecule (GlialCAM) proteins. In addition, autoantibodies to GlialCAM are involved in the pathology...
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MDPI AG
2022-05-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/23/10/5528 |
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| author | Adrià Pla-Casillanis Laura Ferigle Marta Alonso-Gardón Efren Xicoy-Espaulella Ekaitz Errasti-Murugarren Daniela Marazziti Raúl Estévez |
| author_facet | Adrià Pla-Casillanis Laura Ferigle Marta Alonso-Gardón Efren Xicoy-Espaulella Ekaitz Errasti-Murugarren Daniela Marazziti Raúl Estévez |
| author_sort | Adrià Pla-Casillanis |
| collection | DOAJ |
| description | Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of vacuolating leukodystrophy (white matter disorder), which is mainly caused by defects in MLC1 or glial cell adhesion molecule (GlialCAM) proteins. In addition, autoantibodies to GlialCAM are involved in the pathology of multiple sclerosis. <i>MLC1</i> and <i>GLIALCAM</i> genes encode for membrane proteins of unknown function, which has been linked to the regulation of different ion channels and transporters, such as the chloride channel VRAC (volume regulated anion channel), ClC-2 (chloride channel 2), and connexin 43 or the Na<sup>+</sup>/K<sup>+</sup>-ATPase pump. However, the mechanisms by which MLC proteins regulate these ion channels and transporters, as well as the exact function of MLC proteins remain obscure. It has been suggested that MLC proteins might regulate signalling pathways, but the mechanisms involved are, at present, unknown. With the aim of answering these questions, we have recently described the brain GlialCAM interactome. Within the identified proteins, we could validate the interaction with several G protein-coupled receptors (GPCRs), including the orphan GPRC5B and the proposed prosaposin receptors GPR37L1 and GPR37. In this review, we summarize new aspects of the pathophysiology of MLC disease and key aspects of the interaction between GPR37 receptors and MLC proteins. |
| first_indexed | 2024-03-10T03:44:51Z |
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| language | English |
| last_indexed | 2024-03-10T03:44:51Z |
| publishDate | 2022-05-01 |
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| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-cadd853908884078b4073fa294b2bf222023-11-23T11:24:11ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672022-05-012310552810.3390/ijms23105528GPR37 Receptors and Megalencephalic Leukoencephalopathy with Subcortical CystsAdrià Pla-Casillanis0Laura Ferigle1Marta Alonso-Gardón2Efren Xicoy-Espaulella3Ekaitz Errasti-Murugarren4Daniela Marazziti5Raúl Estévez6Unitat de Fisiologia, Departament de Ciències Fisiològiques, Genes Disease and Therapy Program IDIBELL-Institute of Neurosciences, Universitat de Barcelona, L’Hospitalet de Llobregat, 08907 Barcelona, SpainUnitat de Fisiologia, Departament de Ciències Fisiològiques, Genes Disease and Therapy Program IDIBELL-Institute of Neurosciences, Universitat de Barcelona, L’Hospitalet de Llobregat, 08907 Barcelona, SpainUnitat de Fisiologia, Departament de Ciències Fisiològiques, Genes Disease and Therapy Program IDIBELL-Institute of Neurosciences, Universitat de Barcelona, L’Hospitalet de Llobregat, 08907 Barcelona, SpainUnitat de Fisiologia, Departament de Ciències Fisiològiques, Genes Disease and Therapy Program IDIBELL-Institute of Neurosciences, Universitat de Barcelona, L’Hospitalet de Llobregat, 08907 Barcelona, SpainUnitat de Genètica, Departament de Ciències Fisiològiques, Genes Disease and Therapy Program IDIBELL-Institute of Neurosciences, Universitat de Barcelona, L’Hospitalet de Llobregat, 08907 Barcelona, SpainInstitute of Biochemistry and Cell Biology, Italian National Research Council (CNR), I-00015 Rome, ItalyUnitat de Fisiologia, Departament de Ciències Fisiològiques, Genes Disease and Therapy Program IDIBELL-Institute of Neurosciences, Universitat de Barcelona, L’Hospitalet de Llobregat, 08907 Barcelona, SpainMegalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of vacuolating leukodystrophy (white matter disorder), which is mainly caused by defects in MLC1 or glial cell adhesion molecule (GlialCAM) proteins. In addition, autoantibodies to GlialCAM are involved in the pathology of multiple sclerosis. <i>MLC1</i> and <i>GLIALCAM</i> genes encode for membrane proteins of unknown function, which has been linked to the regulation of different ion channels and transporters, such as the chloride channel VRAC (volume regulated anion channel), ClC-2 (chloride channel 2), and connexin 43 or the Na<sup>+</sup>/K<sup>+</sup>-ATPase pump. However, the mechanisms by which MLC proteins regulate these ion channels and transporters, as well as the exact function of MLC proteins remain obscure. It has been suggested that MLC proteins might regulate signalling pathways, but the mechanisms involved are, at present, unknown. With the aim of answering these questions, we have recently described the brain GlialCAM interactome. Within the identified proteins, we could validate the interaction with several G protein-coupled receptors (GPCRs), including the orphan GPRC5B and the proposed prosaposin receptors GPR37L1 and GPR37. In this review, we summarize new aspects of the pathophysiology of MLC disease and key aspects of the interaction between GPR37 receptors and MLC proteins.https://www.mdpi.com/1422-0067/23/10/5528megalencephalic leukoencephalopathy with subcortical cystsGlialCAMMLC1GPRC5BGPR37L1GPR37 |
| spellingShingle | Adrià Pla-Casillanis Laura Ferigle Marta Alonso-Gardón Efren Xicoy-Espaulella Ekaitz Errasti-Murugarren Daniela Marazziti Raúl Estévez GPR37 Receptors and Megalencephalic Leukoencephalopathy with Subcortical Cysts International Journal of Molecular Sciences megalencephalic leukoencephalopathy with subcortical cysts GlialCAM MLC1 GPRC5B GPR37L1 GPR37 |
| title | GPR37 Receptors and Megalencephalic Leukoencephalopathy with Subcortical Cysts |
| title_full | GPR37 Receptors and Megalencephalic Leukoencephalopathy with Subcortical Cysts |
| title_fullStr | GPR37 Receptors and Megalencephalic Leukoencephalopathy with Subcortical Cysts |
| title_full_unstemmed | GPR37 Receptors and Megalencephalic Leukoencephalopathy with Subcortical Cysts |
| title_short | GPR37 Receptors and Megalencephalic Leukoencephalopathy with Subcortical Cysts |
| title_sort | gpr37 receptors and megalencephalic leukoencephalopathy with subcortical cysts |
| topic | megalencephalic leukoencephalopathy with subcortical cysts GlialCAM MLC1 GPRC5B GPR37L1 GPR37 |
| url | https://www.mdpi.com/1422-0067/23/10/5528 |
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