Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents.
Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents.
复制标题
使用市售试剂对肌眼脑型先天性肌营养不良症进行酶诊断测试。
DOI：
10.1016/s0009-9120(03)00036-5
复制
发表时间：
2003
影响因子：
2.8
通讯作者：
H. Schachter
中科院分区：
文献类型：
--
作者：
Wenli Zhang;J. Vajsar;P. Cao;G. Breningstall;C. Diesen;W. Dobyns;R. Herrmann;A. Lehesjoki;A. Steinbrecher;B. Talim;T. Toda;H. Topaloğlu;T. Voit;H. Schachter
突变破坏细胞外配体和α-肌营养不良蛋白聚糖的相互作用，是常染色体隐性遗传性先天性肌营养不良症（CMD）病因学异质性的原因，这些常染色体隐性遗传性先天性肌营养不良症（CMD）可能具有相关的脑和眼异常。目的是开发一种诊断测试，用于这些CMD之一，肌肉-眼-脑疾病（MEB），由于编码蛋白质O-甘露糖基β-1的基因突变，2-N-乙酰葡糖胺转移酶1（POMGnT 1）设计和方法使用市售试剂测定4例MEB患者和各种对照的肌肉活检提取物中的GnT 1酶活性。POMGnT 1活性相对于对照降低。结论MEB肌肉中POMGnT 1活性的测定为这种疾病提供了快速且相对简单的诊断测试。与脑畸形相关的CMD，如MEB，WWS和FCMD在临床表现和放射学检查中是异质性的，这表明肌肉活检的POMGnT 1检测应用作所有与脑畸形相关的CMD患者中MEB的筛查程序。
OBJECTIVESMutations 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).DESIGN AND METHODSPOMGnT1 enzyme activity was determined in extracts of muscle biopsies from four MEB patients and various controls using commercially available reagents.RESULTSAll four MEB muscle samples showed a highly significant decrease in POMGnT1 activity relative to controls.CONCLUSIONSThe 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.
影响因子：
9.8
作者：
Beltran-Valero de Bernabé, D;Currier, S;Brunner, HG
通讯作者：
Brunner, HG
DOI：
10.1046/j.1432-1327.1999.00572.x
发表时间：
1999-08-01
期刊：
EUROPEAN JOURNAL OF BIOCHEMISTRY
影响因子：
--
作者：
Chai, WG;Yuen, CT;Lawson, AM
通讯作者：
Lawson, AM