Novel mechanisms mediated by FMRP in Fragile X syndrome (FXS)
Publish place: 2nd International & 10th National Neurogenetic Congress,
Publish Year: 1396
نوع سند: مقاله کنفرانسی
زبان: English
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شناسه ملی سند علمی:
NGCMED10_120
تاریخ نمایه سازی: 16 تیر 1397
Abstract:
Fragile X syndrome (FXS) is a well-known member of FRXOpathies and has recently been identified as a majorcause of mental retardation. This syndrome is characterized by clinical features such as seizure, epilepsy,attention deficit, anxiety and large face and premature ovarian failure. Expansion of the CGG repeats in the 5 -UTR regions of the FMR1 gene has been demonstrated as the leading cause of FXS. Expanded CGG is linkedwith loss of transcription and clinical manifestation associated with FXS. FMR-1 gene product known as FMRPis an RNA binding protein which affect near 3% of human brain mRNA and has been identified as a target of S6kinase (S6k1). FMRP has been implicated as a key factor in glutamatergic signaling, endocannabinoid system,ion channel biosynthesis and mTOR signaling pathway so we are hopeful by targeting them we could overcomeclinical features associated with them. In this review we try to introduce some major signaling pathway related toFMRP.
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Authors
Seyed Mohsen Aghayee Zarch
Department of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
Seyed Hamidreza Mirabutalebi
Department of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
Amir Abdian Asl
Department of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
Mohammad Yahya Vahidi Mehrjardi
Department of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran