Journal of Biomedicine and Translational Research
Vol 5, No 2 (2019): December 2019

Focal areas of a high rate of fragile X in Indonesia: a long term follow up

Sultana MH Faradz (Faculty of Medicine, Diponegoro University)
Tri Indah Winarni (Faculty of Medicine, Diponegoro University)

Article Info

Publish Date
31 Dec 2019

Abstract

Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability (ID) and a leading cause of autism spectrum disorder (ASD). FXS is caused by an expansion of CGG repeats >200 in the 5′ untranslated region of the promotor region fragile X mental retardation 1 gene (FMR1), which is located on Xq27.3.  The abnormal CGG expansion leads to methylation and transcriptional silencing of the FMR1 gene, resulting in a reduction or loss of fragile X mental retardation 1 protein (FMRP) and causes long, thin, and immature dendritic spines, which lead to deficits in cognitive function, behavioral problems, and learning ability

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Journal Info
Journal of Biomedicine and Translational Research
Website

Abbrev

jbtr

Publisher

Universitas Diponegoro

Subject

Biochemistry, Genetics & Molecular Biology Medicine & Pharmacology

Description

Journal of Biomedicine and Translational Research (JBTR) is an open access, international peer-reviewed journal that considers articles on: clinical medicine, molecular medicine, tropical medicine, infectious diseases, cardiovascular medicine, molecular biology, genetics, immunology, microbiology, ...