PURPOSE OF REVIEW: Dystroglycanopathies are a common group of diseases characterized by a reduction in α-dystroglycan glycosylation. This review discusses the recent novel discovery of additional dystroglycanopathy variants and progress in dystroglycanopathy animal models. RECENT FINDINGS: Several novel glycosyltransferase genes have been found to be responsible for a dystroglycanopathy phenotype, and in addition recessive mutations in DAG1 have been identified for the first time in a primary dystroglycanopathy. Studies in dystroglycanopathy mouse models have clarified some aspects of the structural defects observed in the central nervous system and in the eye, whereas a study in zebrafish implicates unfolded protein response in the pathogenesis of two of the secondary dystroglycanopathies. SUMMARY: Improved understanding of the molecular bases of dystroglycanopathies will lead to more precise diagnosis and genetic counseling; therapeutic strategies are being developed and tested in the preclinical models and it is hoped that these observations will pave the way to therapeutic interventions in humans.
PURPOSE OF REVIEW: Dystroglycanopathies are a common group of diseases characterized by a reduction in α-dystroglycan glycosylation. This review discusses the recent novel discovery of additional dystroglycanopathy variants and progress in dystroglycanopathy animal models. RECENT FINDINGS: Several novel glycosyltransferase genes have been found to be responsible for a dystroglycanopathy phenotype, and in addition recessive mutations in DAG1 have been identified for the first time in a primary dystroglycanopathy. Studies in dystroglycanopathymouse models have clarified some aspects of the structural defects observed in the central nervous system and in the eye, whereas a study in zebrafish implicates unfolded protein response in the pathogenesis of two of the secondary dystroglycanopathies. SUMMARY: Improved understanding of the molecular bases of dystroglycanopathies will lead to more precise diagnosis and genetic counseling; therapeutic strategies are being developed and tested in the preclinical models and it is hoped that these observations will pave the way to therapeutic interventions in humans.
Authors: Cameron D Crockett; Laura A Bertrand; Christopher S Cooper; Riad M Rahhal; Ke Liu; M Bridget Zimmerman; Steven A Moore; Katherine D Mathews Journal: Neurology Date: 2015-01-07 Impact factor: 9.910
Authors: Brianna N Brun; Shelley R H Mockler; Katie M Laubscher; Carrie M Stephan; Julia A Collison; M Bridget Zimmerman; Katherine D Mathews Journal: J Child Neurol Date: 2016-11-22 Impact factor: 1.987
Authors: Brianna N Brun; Tobias Willer; Benjamin W Darbro; Hernan D Gonorazky; Sergey Naumenko; James J Dowling; Kevin P Campbell; Steven A Moore; Katherine D Mathews Journal: Neuromuscul Disord Date: 2018-04-10 Impact factor: 4.296