The ENMC Consortium on Congenital muscular dystrophy (CMD) held its 8th meeting in Naarden during the weekend of the 1719 January 2003. It was attended by 25 participants from nine countries, including Austria, Denmark, France, Germany, Italy, The Netherlands, Turkey, UK, and the USA. The present meeting focused on a group of syndromes characterized by a deficiency in proteins with either a demonstrated or putative enzymatic activity (glycosyltransferases). Five of these conditions have been described so far, of which four affect the human and cause different forms of CMD (WalkerWarburg syndrome, (WWS); Fukuyama CMD, (FCMD); muscle eye brain disease, (MEB); and CMD type 1C, (MDC1C)), and a spontaneously occurring mouse mutant (myd mice) All these five disorders display reduced or absent expression of a-dystroglycan, a highly glycosylated molecule, on immunocytochemistry and Western blot suggesting that the primary defect responsible for each of these disorders may play a role in the processing of a-dystroglycan. In addition, a number of other CMD syndromes in which the primary defect is unknown are also characterized by an abnormal expression of a-dystroglycan, suggesting that abnormal processing of a-dystroglycan plays a significant role in the pathogenesis of a number of CMD syndromes. The first part of the meeting focused on organization of the extracellular matrix, and the role of a-dystroglycan and its binding partners in muscle, while the second part was devoted to syndromes in which abnormal processing or expression of a-dystroglycan has been documented. Sessions were also devoted to pathogenesis of neuronal migration disorders and therapeutic approaches using a novel gene therapy strategy.
114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE).
Sabatelli P;
2003
Abstract
The ENMC Consortium on Congenital muscular dystrophy (CMD) held its 8th meeting in Naarden during the weekend of the 1719 January 2003. It was attended by 25 participants from nine countries, including Austria, Denmark, France, Germany, Italy, The Netherlands, Turkey, UK, and the USA. The present meeting focused on a group of syndromes characterized by a deficiency in proteins with either a demonstrated or putative enzymatic activity (glycosyltransferases). Five of these conditions have been described so far, of which four affect the human and cause different forms of CMD (WalkerWarburg syndrome, (WWS); Fukuyama CMD, (FCMD); muscle eye brain disease, (MEB); and CMD type 1C, (MDC1C)), and a spontaneously occurring mouse mutant (myd mice) All these five disorders display reduced or absent expression of a-dystroglycan, a highly glycosylated molecule, on immunocytochemistry and Western blot suggesting that the primary defect responsible for each of these disorders may play a role in the processing of a-dystroglycan. In addition, a number of other CMD syndromes in which the primary defect is unknown are also characterized by an abnormal expression of a-dystroglycan, suggesting that abnormal processing of a-dystroglycan plays a significant role in the pathogenesis of a number of CMD syndromes. The first part of the meeting focused on organization of the extracellular matrix, and the role of a-dystroglycan and its binding partners in muscle, while the second part was devoted to syndromes in which abnormal processing or expression of a-dystroglycan has been documented. Sessions were also devoted to pathogenesis of neuronal migration disorders and therapeutic approaches using a novel gene therapy strategy.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
