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27 - Role of microRNA pathway in Fragile X mental retardation

from V - MicroRNAs in disease biology

Published online by Cambridge University Press:  22 August 2009

By
Keith Szulwach  and
Peng Jin
Edited by
Krishnarao Appasani
Foreword by
Sidney Altman  and
Victor R. Ambros
Keith Szulwach
Affiliation:
Department of Human Genetics Emory University School of Medicine 615 Michael Street, Room 325.1 Atlanta, GA 30322 USA
Peng Jin
Affiliation:
Department of Human Genetics Emory University School of Medicine 615 Michael Street, Room 325.1 Atlanta, GA 30322 USA
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Summary

Introduction

Loss of the Fragile X Mental Retardation Protein (FMRP) has been identified as the major cause of Fragile X syndrome, one of the most common forms of inherited mental retardation. FMRP's RNA binding character has implicated it in translational regulation. Recently, FMRP has also been linked to the microRNA pathway that is involved in translational suppression. Current work on Fragile X syndrome strives to determine the functional role of FMRP in translational suppression of associated mRNA targets and how components of the microRNA pathway may help to mediate this function.

Clinical phenotypes of Fragile X syndrome

Fragile X syndrome is one of the most common forms of inherited mental retardation with an estimated prevalence of about 1 in 4000 males and 1 in 8000 females. The syndrome is transmitted as an X-linked dominant trait with reduced penetrance (80% in males and 30% in females). The clinical presentations of Fragile X syndrome include mild to severe mental retardation, with IQ between 20 and 70, mildly abnormal facial features of a prominent jaw and large ears, mainly in males, and macroorchidism in post-pubescent males (Crawford et al., 2001; Terracciano et al., 2005). Many patients also display subtle connective tissue abnormalities. Behaviorally, affected males tend to exhibit hyperactivity, social anxiety, preservative speech and language, tactile defensiveness, and hand biting (Crawford et al., 2001; Terracciano et al., 2005).

Type
Chapter
Information
MicroRNAs
From Basic Science to Disease Biology
 , pp. 363 - 371
Publisher: Cambridge University Press
Print publication year: 2007

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