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identify a gene responsible

of a genetic alteration

of myelin

03/05 / 2011
disorders white matter, also called myelin encompass a large group of diseases that affect the substance. In childhood, diseases are often genetic and is often not diagnosed.

Now a team of researchers led by Raúl Estévez, professor, Department of Physiology II in the Health Sciences campus de Bellvitge of the UB, in cooperation with the researcher Marjo van der Knaap, Medical Center University of the Free University of Amsterdam, have identified the gene GLIALCAM as responsible for 25% of cases of leukoencephalopathy megalencefálica with subcortical cysts (MLC), a rare genetic disease that affects the brain myelin.

In this study, published and selected as a featured article in the journal Cell group The American Journal of Human Genetics, also participated Tania López-Hernández, principal coauthor predoctoral fellow of the UB researchers and Albert Martinez of the Institute for Research in Biomedicine (IRB Barcelona) and Virginia Nunes, UB professor and researcher at the Institute of Biomedical Research of Bellvitge (IDIBELL), among others.

Myelin is necessary to properly propagate nerve impulses between neurons and to run the commands of the brain that make movement possible. In childhood, these diseases tend to be genetic and affects a single gene. In adulthood, are inflammatory diseases such as multiple sclerosis. "In the case of childhood diseases, each one in particular is rare or very rare, but if you look at all as a group, then, the incidence is high, a hit for every thousand people," says Raúl Estévez, prize ICREA Academy and member of the Biomedical Research Center Network of Rare Diseases (CIBERER). "Besides," added the expert, "in a very high percentage of children with involvement of the myelin, the diagnosis is unclear and can not reach any conclusion."

In recent years, thanks to the application of patterns of abnormalities in magnetic resonance imaging of the brain, new diseases have been defined. Thus, in 1995, identified a disease of myelin called autosomal recessive leukoencephalopathy megalencefálica with subcortical cysts (MLC). In 2001, it was discovered that the gene responsible for 75% of cases of this disease is called MLC1 and at the same time, was that there were other cases that could not be explained by mutations in this gene. In the remaining 25% showed two clinical phenotypes: one of them, the clinical course, with progressive degeneration is the same as the majority group, on the other hand, the disease improves or disappears. The common denominator in these patients is the presence of macrocephaly, which may occur with autism and learning difficulties.

The study published in the journal The American Journal of Human Genetics part of the heterogeneity of the disease to find other genes responsible for this mutation. To identify them, studies have combined genetic and biochemical results show that patients with progressive degeneration Two mutations GLIALCAM, while others have a single mutation in this gene, indicating an autosomal dominant . In this same study, which also describes the biochemical defects of the disease, we have determined that mutations in the GLIALCAM also cause benign familial macrocephaly macrocephaly mental retardation, with or without autism.

"Although the gene function GLIALCAM remains unknown, research shows they are required multidisciplinary collaborative and translational work to advance the causes that explain these rare diseases and to find new therapies, "concludes Estévez.

SKU:

López-Hernández, Tania; Ridder, Margreet C.; Montolio, Marisol, Capdevila-North, Xavier, Polder, Emiel; Sirisi, Sonia; Duarri, Anna ; Schulte, Uwe; Fakler, Bernd; Nunes, Virginia; Scheper, Gert C., Martínez, Albert; Estévez, Raúl, Van der Knaap, Marjo S. " MutantGlialCAM causes leukoencephalopathy with subcortical Megalencephalic Cysts, Benign familial macrocephaly, and macrocephaly with Retardation and Autism." The American Journal of Human Genetics , April 2011, vol. 88, No. 4, pp. 422-432.