Scientists identify the relationship between two genes that cause MLC
A study published in the journal Human Molecular Genetics reports the first analysis of a complete brain sample from a patient suffering from megalencephalic leukoencephalopathy with subcortical cysts (MLC) and outlines the functional relationship between the two genes (MLC1 and GLIALCAM) known to cause this disease.
A study published in the journal Human Molecular Genetics reports the first analysis of a complete brain sample from a patient suffering from megalencephalic leukoencephalopathy with subcortical cysts (MLC) and outlines the functional relationship between the two genes (MLC1 and GLIALCAM) known to cause this disease.
The research was led by Raúl Estévez, a lecturer from the Department of Physiological Sciences II, based at the UBʼs Bellvitge Health Sciences Campus, and was also contributed to by Virginia Nunes, a lecturer at the UB and researcher for the Bellvitge Biomedical Research Institute (IDIBELL). Estévez and Nunes, both members of the Centre for Biomedical Network Research on Rare Diseases (CIBERER), worked in collaboration with Pilar Casquero, from the Mateu Orfila Hospital in Mahón (Menorca), Isidre Ferrer, professor of pathological anatomy and a researcher for IDIBELL and the Hospital de Bellvitge, and Francisco Ciruela, a lecturer with the Department of Pathology and Experimental Therapy.
The biochemical studies carried out have also served to identify the molecular cause at the root of the signalling defect of the mutated MLC1 and GlialCAM proteins in MLC patients. The new study is a continuation of the work reported in a recent article published in the American Journal of Human Genetics, which identified the second gene whose mutation causes MLC.
Original article:
Tania López-Hernández, Sònia Sirisi, Xavier Capdevila-Nortes, Marisol Montolio, Victor Fernández-Dueñas, Gert C Scheper, Marjo S van der Knaap, Pilar Casquero, Francisco Ciruela, Isidre Ferrer, Virginia Nunes, Raúl Estévez. "Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts". Human Molecular Genetics(2011). doi: 10.1093/hmg/ddr238
Previous news item:
Researchers identify a genetic mutation causing MLC
Article reference:
López-Hernández, Tania; Sirisi, Sònia; Capdevila-Nortes, Xavier; Montolio, Marisol; Fernández-Dueñas, Víctor; Scheper, Gert C.; Van der Knaap, Marjo S.; Casquero, Pilar; Ciruela, Francisco; Ferrer, Isidre; Nunes, Virginia; Estévez, Raúl. «Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts». Human Molecular Genetics,2011. Doi: 10.1093/hmg/ddr238.