The dystroglycan (DG) expression pattern can be altered in severe muscular dystrophies. In fact, some congenital muscular dystrophies (CMDs) and limb-girdle muscular dystrophies (LGMDs) are caused by point mutations identified in six glycosyltransferase genes which are likely to target different steps along the posttranslational "O-glycosylation route" leading to a fully decorated and functional α-DG subunit. Indeed, hypoglycosylation of α-DG is thought to represent a major pathological event, in that it could reduce the DG's ability to bind the basement membrane components, thus leading to sarcolemmal instability and necrosis. In order to set up an efficient standard immunological protocol, taking advantage of a wide panel of antibodies, we have analyzed the two DG subunits in a small cohort of adult dystrophic patients, whom an extensive medical examination had already clinically classified as affected by LGMD (5), Miyoshi (1) or distal (1) myopathy. Immunofluorescence analysis of skeletal muscle tissue sections revealed a proper sarcolemmal localization of the DG subunits in all the patients analyzed. However, Western blot analysis of lectin enriched skeletal muscle samples revealed an abnormal glycosylation of α-DG in two patients. Our work reinforces the notion that a careful immunological and biochemical analysis of the two DG subunits should be always considered as a prerequisite for the identification of new putative cases of dystroglycanopathy.
This is the first prospective study carried out in Argentina and Latin America to provide the impact of epilepsy throughout the childbearing years life of women, and pregnancy outcome in a population of pregnant women with diagnosis of epilepsy and antiepileptics drugs (AEDs). Ninety-four women were studied prospectively at the Epilepsy Center, the largest in Argentina. Of the 94 women examined in this study only 10% planned their pregnancy and received folic acid before conception.More than half of women in our study were on monotherapy, with the most frequently prescribed drugs being carbamazepine and valproic acid. In all, 90.4% of the women had a normal pregnancy and delivery. There were 8.5% spontaneous abortions. Major congenital malformations (MCM) was detected in 10.6% of newborns at birth; in the general population it varies between 1.6-3.2%. The results from this study are helpful in the highlighting correct gaps in knowledge in this population group.