الفهرس 
Serum matrix metalloproteinase-9 (MMP9) and amyloid-beta protein precursor (APP) as severity biomarkers in children genetically diagnosed as Fragile-X syndrome
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Abstract
Background and Objective:
Fragile X syndrome (FXS) is a common genetic disorder and a common cause of intellectual disability in children that is directly related to defect in the Fragile X Mental Retardation 1 (FMR1) gene and the subsequent affection of its protein (FMRP), which is an important RNA binding protein. Some key FMRP regulated mRNAs and proteins include matrix metalloproteinase 9 (MMP9) and amyloid precursor protein (APP).
We aimed in this study to establish the genetic diagnosis of Fragile X syndrome in Egyptian children and to evaluate the serum matrix metalloproteinase-9 (MMP9) and amyloid-beta protein precursor (APP) as potential screening and severity biomarkers in children with Fragile-X syndrome compared to the control groups.
Methods: 110 subjects (80 children who were clinically suspected to have FXS and 30 healthy children serving as a healthy control group were recruited in this study. Suspected children were subjected to detection of FMR1 repeat expansion (CGG repeats) using polymerase chain reaction (PCR). The determination of matrix metalloproteinase 9 (MMP9) and Amyloid-beta protein precursor (APP) levels in serum was conducted using Enzyme-linked immune-sorbent assay (ELISA) kits.