Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents
2003; Elsevier BV; Volume: 36; Issue: 5 Linguagem: Inglês
10.1016/s0009-9120(03)00036-5
ISSN1873-2933
AutoresWei Zhang, Jiri Vajsar, Pinjiang Cao, Galen N. Breningstall, Charlotta Diesen, William B. Dobyns, Ralph Herrmann, Anna-Elina Lehesjoki, Alice Steinbrecher, Beril Talim, Tatsushi Toda, Haluk Topaloğlu, Thomas Voit, Harry Schachter,
Tópico(s)Tissue Engineering and Regenerative Medicine
ResumoMutations disrupting the interaction of extra-cellular ligands and α-dystroglycan are responsible for an etiologically heterogeneous group of autosomal recessive congenital muscular dystrophies (CMD) that can have associated brain and eye abnormalities. The objective is to develop a diagnostic test for one of these CMDs, Muscle-Eye-Brain disease (MEB), due to mutations in the gene encoding Protein O-Mannosyl β-1,2-N-acetylglucosaminyltransferase 1 (POMGnT1). POMGnT1 enzyme activity was determined in extracts of muscle biopsies from four MEB patients and various controls using commercially available reagents. All four MEB muscle samples showed a highly significant decrease in POMGnT1 activity relative to controls. The assay of POMGnT1 activity in MEB muscle provides a rapid and relatively simple diagnostic test for this disease. CMDs associated with brain malformations such as MEB, WWS and FCMD are heterogenous in clinical presentation and on radiologic examination, suggesting that POMGnT1 assays of muscle biopsies should be used as a screening procedure for MEB in all CMD patients associated with brain malformations.
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